G30S (p.Gly30Ser) variant of KRT8 (Keratin, type II cytoskeletal 8)
G30S (p.Gly30Ser) 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.
G30S (p.Gly30Ser) variant details
- p.Gly30Ser
- TOPMed rs1321446458
- gnomAD rs1321446458
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- CADD 3.22
- PolyPhen-2 0.03
- SIFT 0.57
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)