G52S (p.Gly52Ser) variant of KRT8 (Keratin, type II cytoskeletal 8)
G52S (p.Gly52Ser) in KRT8 (Keratin, type II cytoskeletal 8) 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.
G52S (p.Gly52Ser) variant details
- p.Gly52Ser
- gnomAD rs1481688006
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- CADD 9.05
- PolyPhen-2 0.01
- SIFT 0.45
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)