G27S (p.Gly27Ser) variant of KRT14 (Keratin, type I cytoskeletal 14)
G27S (p.Gly27Ser) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
G27S (p.Gly27Ser) variant details
- p.Gly27Ser
- ExAC rs779340321
- gnomAD rs779340321
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.31
- CADD 17.40
- PolyPhen-2 0.86
- SIFT 0.35
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available