S12G (p.Ser12Gly) variant of KRT6A (Keratin, type II cytoskeletal 6A)
S12G (p.Ser12Gly) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
S12G (p.Ser12Gly) variant details
- p.Ser12Gly
- 1000Genomes rs2120413233
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.13
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available