G31D (p.Gly31Asp) variant of KRT2 (P35908)
G31D (p.Gly31Asp) in KRT2 (P35908) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G31D (p.Gly31Asp) variant details
- p.Gly31Asp
- NCI-TCGA Cosmic COSV1005
- TOPMed rs1329013108
- gnomAD rs1329013108
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.21
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available