S69G (p.Ser69Gly) variant of KRT3 (Keratin, type II cytoskeletal 3)
S69G (p.Ser69Gly) in KRT3 (Keratin, type II cytoskeletal 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
S69G (p.Ser69Gly) variant details
- p.Ser69Gly
- ExAC rs752074039
- TOPMed rs752074039
- gnomAD rs752074039
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.20
- CADD 13.10
- PolyPhen-2 0.02
- SIFT 0.06
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available