S34R (p.Ser34Arg) variant of KRT8 (Keratin, type II cytoskeletal 8)
S34R (p.Ser34Arg) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data.
S34R (p.Ser34Arg) variant details
- p.Ser34Arg
- gnomAD rs1158806302
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- CADD 22.80
- PolyPhen-2 0.13
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)