S2T (p.Ser2Thr) variant of KRT18 (Keratin, type I cytoskeletal 18)
S2T (p.Ser2Thr) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S2T (p.Ser2Thr) variant details
- p.Ser2Thr
- ESP rs369198778
- ExAC rs369198778
- gnomAD rs369198778
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.36
- CADD 22.10
- PolyPhen-2 0.47
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available