A23T (p.Ala23Thr) variant of ITGA6 (Integrin alpha-6)
A23T (p.Ala23Thr) in ITGA6 (Integrin alpha-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
A23T (p.Ala23Thr) variant details
- p.Ala23Thr
- gnomAD 2-172427855-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- CADD 23.60
- PolyPhen-2 0.10
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available