S53G (p.Ser53Gly) variant of KRT18 (Keratin, type I cytoskeletal 18)
S53G (p.Ser53Gly) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S53G (p.Ser53Gly) variant details
- p.Ser53Gly
- gnomAD rs1341730231
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.22
- CADD 17.60
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available