S76C (p.Ser76Cys) variant of KRT12 (Keratin, type I cytoskeletal 12)
S76C (p.Ser76Cys) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
S76C (p.Ser76Cys) variant details
- p.Ser76Cys
- ExAC rs748781010
- gnomAD rs748781010
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.11
- CADD 8.89
- PolyPhen-2 0.01
- SIFT 0.23
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available