G5W (p.Gly5Trp) variant of ITGA6 (Integrin alpha-6)
G5W (p.Gly5Trp) in ITGA6 (Integrin alpha-6) 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, published literature, and structural context.
G5W (p.Gly5Trp) variant details
- p.Gly5Trp
- gnomAD 2-172427801-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- CADD 24.30
- PolyPhen-2 0.94
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available