F101S (p.Phe101Ser) variant of KRT12 (Keratin, type I cytoskeletal 12)
F101S (p.Phe101Ser) in KRT12 (Keratin, type I cytoskeletal 12) 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.
F101S (p.Phe101Ser) variant details
- p.Phe101Ser
- ESP rs150377929
- ExAC rs150377929
- TOPMed rs150377929
- gnomAD rs150377929
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.15
- CADD 15.30
- PolyPhen-2 0.01
- SIFT 0.22
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available