S58R (p.Ser58Arg) variant of KRT8 (Keratin, type II cytoskeletal 8)
S58R (p.Ser58Arg) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data.
S58R (p.Ser58Arg) variant details
- p.Ser58Arg
- ExAC rs758320532
- gnomAD rs758320532
- Missense
- Variant Prioritization Score for Impact Estimate 0.0607
- CADD 0.03
- PolyPhen-2 0.01
- SIFT 0.42
- Most common in the 1KG:CLM population (allele frequency 0.0053)