V35M (p.Val35Met) variant of ITGB4 (Integrin beta-4)
V35M (p.Val35Met) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
V35M (p.Val35Met) variant details
- p.Val35Met
- gnomAD 17-75727218-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.56
- CADD 26.40
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available