S30G (p.Ser30Gly) variant of KRT18 (Keratin, type I cytoskeletal 18)
S30G (p.Ser30Gly) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
S30G (p.Ser30Gly) variant details
- p.Ser30Gly
- Ensembl rs1942418738
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.46
- CADD 25.10
- PolyPhen-2 0.77
- SIFT 0.11
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available