G84D (p.Gly84Asp) variant of KRT6A (Keratin, type II cytoskeletal 6A)
G84D (p.Gly84Asp) 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 0.51 / 1. The record also includes population frequency data and structural context.
G84D (p.Gly84Asp) variant details
- p.Gly84Asp
- NCI-TCGA TCGA novel
- TOPMed rs1938299685
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.40
- CADD 21.60
- PolyPhen-2 0.07
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available