S114R (p.Ser114Arg) variant of KRT14 (Keratin, type I cytoskeletal 14)
S114R (p.Ser114Arg) in KRT14 (Keratin, type I cytoskeletal 14) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
S114R (p.Ser114Arg) variant details
- p.Ser114Arg
- ExAC rs769668914
- gnomAD rs769668914
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.55
- CADD 21.20
- PolyPhen-2 0.17
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available