A70S (p.Ala70Ser) variant of ITGB4 (Integrin beta-4)
A70S (p.Ala70Ser) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A70S (p.Ala70Ser) variant details
- p.Ala70Ser
- gnomAD 17-75727449-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.11
- CADD 9.53
- PolyPhen-2 0.01
- SIFT 0.62
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available