T11A (p.Thr11Ala) variant of KRT18 (Keratin, type I cytoskeletal 18)
T11A (p.Thr11Ala) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
T11A (p.Thr11Ala) variant details
- p.Thr11Ala
- ExAC rs748718547
- gnomAD rs748718547
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.29
- CADD 15.10
- PolyPhen-2 0.17
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available