S76C (p.Ser76Cys) variant of KRT6A (Keratin, type II cytoskeletal 6A)
S76C (p.Ser76Cys) in KRT6A (Keratin, type II cytoskeletal 6A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
S76C (p.Ser76Cys) variant details
- p.Ser76Cys
- TOPMed rs969769444
- gnomAD rs969769444
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.12
- CADD 22.80
- PolyPhen-2 0.32
- SIFT 0.04
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available