L22V (p.Leu22Val) variant of ITGB4 (Integrin beta-4)
L22V (p.Leu22Val) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
L22V (p.Leu22Val) variant details
- p.Leu22Val
- gnomAD 17-75724767-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0717
- REVEL 0.07
- CADD 1.41
- PolyPhen-2 0.05
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available