L67V (p.Leu67Val) variant of ITGB4 (Integrin beta-4)
L67V (p.Leu67Val) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
L67V (p.Leu67Val) variant details
- p.Leu67Val
- gnomAD 17-75727440-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.59
- CADD 21.40
- PolyPhen-2 0.14
- SIFT 0.01
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available