S5G (p.Ser5Gly) variant of KRT14 (Keratin, type I cytoskeletal 14)
S5G (p.Ser5Gly) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S5G (p.Ser5Gly) variant details
- p.Ser5Gly
- ExAC rs753894587
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.29
- CADD 22.00
- PolyPhen-2 0.30
- SIFT 0.33
- Population evidence available
- Structural context available