V35A (p.Val35Ala) variant of ITGB4 (Integrin beta-4)
V35A (p.Val35Ala) 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.
V35A (p.Val35Ala) variant details
- p.Val35Ala
- gnomAD 17-75727219-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.16
- CADD 18.00
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available