A2V (p.Ala2Val) variant of ITGA6 (Integrin alpha-6)
A2V (p.Ala2Val) in ITGA6 (Integrin alpha-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- ExAC rs770965047
- TOPMed rs770965047
- gnomAD rs770965047
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- CADD 23.20
- PolyPhen-2 0.48
- SIFT 0.20
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available