F101C (p.Phe101Cys) variant of KRT12 (Keratin, type I cytoskeletal 12)
F101C (p.Phe101Cys) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
F101C (p.Phe101Cys) variant details
- p.Phe101Cys
- ESP rs150377929
- ExAC rs150377929
- TOPMed rs150377929
- gnomAD rs150377929
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.26
- CADD 19.90
- PolyPhen-2 0.53
- SIFT 0.07
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available