S124C (p.Ser124Cys) variant of KRT1 (Keratin, type II cytoskeletal 1)
S124C (p.Ser124Cys) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
S124C (p.Ser124Cys) variant details
- p.Ser124Cys
- 1000Genomes rs564926977
- ExAC rs564926977
- TOPMed rs564926977
- gnomAD rs564926977
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.24
- CADD 8.92
- PolyPhen-2 0.19
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available