S9Y (p.Ser9Tyr) variant of KRT1 (Keratin, type II cytoskeletal 1)
S9Y (p.Ser9Tyr) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
S9Y (p.Ser9Tyr) variant details
- p.Ser9Tyr
- ExAC rs770778354
- gnomAD rs770778354
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.30
- CADD 19.80
- PolyPhen-2 0.02
- SIFT 0.07
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available