Is PARP14 p.Pro695Thr (c.2083C>A) pathogenic?

PARP14 p.Pro695Thr (c.2083C>A) is classified Benign in PARP14 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2014-10-31). AlphaMissense: likely benign (0.0894); No allele count reported in gnomAD v4.1 (AN 1,605,186); Associated with Abnormality of neuronal migration.

What condition is associated with PARP14 p.Pro695Thr (c.2083C>A)?

PARP14 p.Pro695Thr (c.2083C>A) is associated with Abnormality of neuronal migration (ClinVar).

How common is PARP14 p.Pro695Thr (c.2083C>A) in the general population?

PARP14 p.Pro695Thr (c.2083C>A) is no allele count reported in gnomAD v4.1 (AN 1,605,186) (gnomAD).

What do computational predictors say about PARP14 p.Pro695Thr (c.2083C>A)?

AlphaMissense predicts likely benign (score 0.0894) — an in-silico prediction, not a clinical call.

PARP14 p.Pro695Thr

c.2083C>A · rs863223385 · VCV208930

Benign No assertion criteria

Classification

Benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.0894 · ACMG-weighted

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,605,186)

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Conditions

Abnormality of neuronal migration

Computational evidence

Protein change
AlphaMissense	0.0894	likely benign
REVEL	0.007	strongly benign-leaning
SaProt	LLR -7.24	tolerated
⇒ AlphaMissense, REVEL and SaProt all call this tolerated.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -7.1	GERP -3.9
Regional constraint	o/e 0.83	unconstrained · MANE · 47 kb · p 1.1e-13 · regional, not allelic
Overall
CADD	0.113	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,605,186). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: PARP14
Protein: p.Pro695Thr
Coding: c.2083C>A
MANE Select: NM_017554
dbSNP: rs863223385
Type: single nucleotide variant
Location: chr3:122700637 (GRCh38)
Gene constraint: LOEUF 0.434 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 82.00 · 47 PDB

Full PARP14 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Abnormality of neuronal migration — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

PARP14 p.Ser485Arg Benign same condition
PARP14 p.Pro1200Leu Uncertain significance ★★ ⚠ same type
PARP14 p.Ala1513Val Benign ★★ same type
PARP14 p.Ala864= Benign ★★ same type
PARP14 p.Asp488Asn Benign ★★ same type
PARP14 p.Gln1413Pro Benign ★★ same type
PARP14 p.Ala1187Ser Uncertain significance ★ ⚠ same type
PARP14 p.Ala1202Ser Uncertain significance ★ ⚠ same type

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/parp14-p-pro695thr (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown