A463V (p.Ala463Val) variant of KRT6A (Keratin, type II cytoskeletal 6A)
A463V (p.Ala463Val) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Pachyonychia congenita 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
A463V (p.Ala463Val) variant details
- p.Ala463Val
- gnomAD rs1938188470
- Likely pathogenic
- Pachyonychia congenita 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.86
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Likely pathogenic (Pachyonychia congenita 3)
- UniProt: Likely pathogenic (in PC3)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available