G124D (p.Gly124Asp) variant of KRT6A (Keratin, type II cytoskeletal 6A)
G124D (p.Gly124Asp) in KRT6A (Keratin, type II cytoskeletal 6A) 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 0.53 / 1. The record also includes population frequency data and structural context.
G124D (p.Gly124Asp) variant details
- p.Gly124Asp
- rs762168782
- NCI-TCGA Cosmic COSV1004
- ExAC rs762168782
- TOPMed rs762168782
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.47
- CADD 22.50
- PolyPhen-2 0.06
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available