V29A (p.Val29Ala) variant of KRT18 (Keratin, type I cytoskeletal 18)
V29A (p.Val29Ala) 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 and structural context.
V29A (p.Val29Ala) variant details
- p.Val29Ala
- Ensembl rs1942418545
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.13
- CADD 11.90
- PolyPhen-2 0.01
- SIFT 0.61
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available