V48A (p.Val48Ala) variant of KRT18 (Keratin, type I cytoskeletal 18)
V48A (p.Val48Ala) in KRT18 (Keratin, type I cytoskeletal 18) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
V48A (p.Val48Ala) variant details
- p.Val48Ala
- ExAC rs761933454
- gnomAD rs761933454
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.44
- CADD 18.60
- PolyPhen-2 0.17
- SIFT 0.06
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available