C41R (p.Cys41Arg) variant of ITGB4 (Integrin beta-4)
C41R (p.Cys41Arg) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
C41R (p.Cys41Arg) variant details
- p.Cys41Arg
- gnomAD rs920810686
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.98
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available