V35A (p.Val35Ala) variant of KRT18 (Keratin, type I cytoskeletal 18)
V35A (p.Val35Ala) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
V35A (p.Val35Ala) variant details
- p.Val35Ala
- gnomAD 12-52949277-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.58
- CADD 30.00
- PolyPhen-2 0.55
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available