S34T (p.Ser34Thr) variant of KRT18 (Keratin, type I cytoskeletal 18)
S34T (p.Ser34Thr) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
S34T (p.Ser34Thr) variant details
- p.Ser34Thr
- Ensembl rs1427838806
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.56
- CADD 23.80
- PolyPhen-2 0.15
- SIFT 0.06
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available