S7F (p.Ser7Phe) variant of KRT9 (Keratin, type I cytoskeletal 9)
S7F (p.Ser7Phe) in KRT9 (Keratin, type I cytoskeletal 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S7F (p.Ser7Phe) variant details
- p.Ser7Phe
- TOPMed rs1248835319
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.33
- CADD 15.40
- PolyPhen-2 0.30
- SIFT 0.00
- Population evidence available
- Structural context available