Is CWF19L2 p.Pro211Arg (c.632C>G) pathogenic?

CWF19L2 p.Pro211Arg (c.632C>G) is classified Uncertain significance in CWF19L2 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-10-15). AlphaMissense: likely benign (0.1528); Absent from gnomAD v4.1.

How common is CWF19L2 p.Pro211Arg (c.632C>G) in the general population?

CWF19L2 p.Pro211Arg (c.632C>G) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about CWF19L2 p.Pro211Arg (c.632C>G)?

AlphaMissense predicts likely benign (score 0.1528) — an in-silico prediction, not a clinical call.

CWF19L2 p.Pro211Arg

c.632C>G · VCV4657763

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.1528 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

1/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.1528	likely benign
REVEL	0.138	moderately benign-leaning
SaProt	LLR -10.45	damaging
⇒ SaProt calls this damaging; AlphaMissense and REVEL do not.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 11	GERP 1.8, phastCons 1
Regional constraint	o/e 1.05	unconstrained · MANE · 131 kb · p 0.13 · regional, not allelic
Overall
CADD	24.5	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

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: CWF19L2
Protein: p.Pro211Arg
Coding: c.632C>G
MANE Select: NM_152434
Type: single nucleotide variant
Location: chr11:107439122 (GRCh38)
Gene constraint: LOEUF 1.035 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 66.67 · 4 PDB

Full CWF19L2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

CWF19L2 p.Pro211Ser Uncertain significance ★ ⚠ same residue
CWF19L2 p.Ala15Val Uncertain significance ★ ⚠ same type
CWF19L2 p.Ala28Val Uncertain significance ★ ⚠ same type
CWF19L2 p.Ala522Thr Uncertain significance ★ ⚠ same type
CWF19L2 p.Ala691Gly Uncertain significance ★ ⚠ same type
CWF19L2 p.Ala781Thr Uncertain significance ★ ⚠ same type
CWF19L2 p.Arg286Trp Uncertain significance ★ ⚠ same type
CWF19L2 p.Arg317Ile 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/cwf19l2-p-pro211arg (accessed [today's date]).

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