W52L (p.Trp52Leu) variant of ITGA6 (Integrin alpha-6)
W52L (p.Trp52Leu) in ITGA6 (Integrin alpha-6) 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.
W52L (p.Trp52Leu) variant details
- p.Trp52Leu
- gnomAD 2-172427943-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- CADD 24.80
- PolyPhen-2 0.05
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available