Is PCGF2 p.Ala232Asp (c.695C>A) pathogenic?

PCGF2 p.Ala232Asp (c.695C>A) is classified Uncertain significance in PCGF2 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-12-10). AlphaMissense: likely pathogenic (0.6428); No allele count reported in gnomAD v4.1 (AN 1,585,228); Associated with Inborn genetic diseases.

What condition is associated with PCGF2 p.Ala232Asp (c.695C>A)?

PCGF2 p.Ala232Asp (c.695C>A) is associated with Inborn genetic diseases (ClinVar).

How common is PCGF2 p.Ala232Asp (c.695C>A) in the general population?

PCGF2 p.Ala232Asp (c.695C>A) is no allele count reported in gnomAD v4.1 (AN 1,585,228) (gnomAD).

What do computational predictors say about PCGF2 p.Ala232Asp (c.695C>A)?

AlphaMissense predicts likely pathogenic (score 0.6428) — an in-silico prediction, not a clinical call.

PCGF2 p.Ala232Asp

c.695C>A · VCV4627073

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely pathogenic

0.6428 · ACMG-weighted

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,585,228)

Missense predictors

2/3 damaging

AlphaMissense, REVEL, SaProt

Conditions

Inborn genetic diseases

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

Computational evidence

Protein change
AlphaMissense	0.6428	likely pathogenic
REVEL	0.036	moderately benign-leaning
SaProt	LLR -10.36	damaging
⇒ AlphaMissense and SaProt call this damaging; REVEL does not.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 9.7	GERP 2.1, phastCons 1
Overall
CADD	24.8	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 1,585,228). 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: PCGF2
Protein: p.Ala232Asp
Coding: c.695C>A
MANE Select: NM_007144
Type: single nucleotide variant
Location: chr17:38735563 (GRCh38)

Full PCGF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Inborn genetic diseases — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

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/pcgf2-p-ala232asp (accessed [today's date]).

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