P132S (p.Pro132Ser) variant of KRT6A (Keratin, type II cytoskeletal 6A)
P132S (p.Pro132Ser) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. 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.
P132S (p.Pro132Ser) variant details
- p.Pro132Ser
- 1000Genomes rs564186303
- ExAC rs564186303
- gnomAD rs564186303
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.45
- CADD 22.70
- PolyPhen-2 0.30
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available