T4A (p.Thr4Ala) variant of KRT18 (Keratin, type I cytoskeletal 18)
T4A (p.Thr4Ala) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
T4A (p.Thr4Ala) variant details
- p.Thr4Ala
- gnomAD rs1241148678
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.32
- CADD 22.90
- PolyPhen-2 0.17
- SIFT 0.02
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available