A15V (p.Ala15Val) variant of ITGB4 (Integrin beta-4)
A15V (p.Ala15Val) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A15V (p.Ala15Val) variant details
- p.Ala15Val
- ExAC rs765798295
- gnomAD rs765798295
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.03
- CADD 11.30
- PolyPhen-2 0.01
- SIFT 0.71
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available