S34G (p.Ser34Gly) variant of KRT18 (Keratin, type I cytoskeletal 18)
S34G (p.Ser34Gly) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
S34G (p.Ser34Gly) variant details
- p.Ser34Gly
- gnomAD 12-52949273-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.57
- CADD 24.60
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available