G17S (p.Gly17Ser) variant of KRT18 (Keratin, type I cytoskeletal 18)
G17S (p.Gly17Ser) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
G17S (p.Gly17Ser) variant details
- p.Gly17Ser
- gnomAD 12-52949222-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.21
- CADD 22.80
- PolyPhen-2 0.13
- SIFT 0.32
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available