A69V (p.Ala69Val) variant of ITGB4 (Integrin beta-4)
A69V (p.Ala69Val) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A69V (p.Ala69Val) variant details
- p.Ala69Val
- TOPMed rs1312234220
- gnomAD rs1312234220
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.31
- CADD 20.60
- PolyPhen-2 0.36
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available