S51R (p.Ser51Arg) variant of KRT4 (Keratin, type II cytoskeletal 4)
S51R (p.Ser51Arg) in KRT4 (Keratin, type II cytoskeletal 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
S51R (p.Ser51Arg) variant details
- p.Ser51Arg
- ExAC rs752880188
- gnomAD rs752880188
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.79
- CADD 22.30
- PolyPhen-2 0.30
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available