F122C (p.Phe122Cys) variant of KRT1 (Keratin, type II cytoskeletal 1)
F122C (p.Phe122Cys) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
F122C (p.Phe122Cys) variant details
- p.Phe122Cys
- Ensembl rs866517183
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.34
- CADD 6.37
- PolyPhen-2 0.19
- SIFT 0.17
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available