A2G (p.Ala2Gly) variant of ITGA6 (Integrin alpha-6)
A2G (p.Ala2Gly) in ITGA6 (Integrin alpha-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
A2G (p.Ala2Gly) variant details
- p.Ala2Gly
- gnomAD 2-172427793-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- CADD 23.50
- PolyPhen-2 0.64
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available