A2V (p.Ala2Val) variant of ITGB4 (Integrin beta-4)
A2V (p.Ala2Val) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- Ensembl rs1568339518
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.19
- CADD 25.00
- PolyPhen-2 0.97
- SIFT 0.02
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available