S134R (p.Ser134Arg) variant of KRT8 (Keratin, type II cytoskeletal 8)
S134R (p.Ser134Arg) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
S134R (p.Ser134Arg) variant details
- p.Ser134Arg
- TOPMed rs1203391514
- gnomAD rs1203391514
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- CADD 22.50
- PolyPhen-2 0.25
- SIFT 0.03
- Population evidence available