R60L (p.Arg60Leu) variant of ITGB4 (Integrin beta-4)
R60L (p.Arg60Leu) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R60L (p.Arg60Leu) variant details
- p.Arg60Leu
- gnomAD 17-75727420-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.92
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available