V42L (p.Val42Leu) variant of ITGB4 (Integrin beta-4)
V42L (p.Val42Leu) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
V42L (p.Val42Leu) variant details
- p.Val42Leu
- gnomAD 17-75727239-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.22
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.38
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available