A70A (p.Ala70Ala) variant of ITGB4 (Integrin beta-4)
A70A (p.Ala70Ala) in ITGB4 (Integrin beta-4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A70A (p.Ala70Ala) variant details
- p.Ala70Ala
- rs200500313
- gnomAD 17-75727451-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0829
- CADD 0.32
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available