S53T (p.Ser53Thr) variant of KRT18 (Keratin, type I cytoskeletal 18)
S53T (p.Ser53Thr) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
S53T (p.Ser53Thr) variant details
- p.Ser53Thr
- gnomAD 12-52949331-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.35
- CADD 13.90
- PolyPhen-2 0.17
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available