A49V (p.Ala49Val) variant of ITGA6 (Integrin alpha-6)
A49V (p.Ala49Val) in ITGA6 (Integrin alpha-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
A49V (p.Ala49Val) variant details
- p.Ala49Val
- ExAC rs750028773
- gnomAD rs750028773
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- CADD 27.70
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available