S7Y (p.Ser7Tyr) variant of KRT18 (Keratin, type I cytoskeletal 18)
S7Y (p.Ser7Tyr) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
S7Y (p.Ser7Tyr) variant details
- p.Ser7Tyr
- ExAC rs775547844
- gnomAD rs775547844
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.57
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.06
- Population evidence available
- Structural context available