C30R (p.Cys30Arg) variant of ITGB4 (Integrin beta-4)
C30R (p.Cys30Arg) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
C30R (p.Cys30Arg) variant details
- p.Cys30Arg
- TOPMed rs1328578813
- gnomAD rs1328578813
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.86
- CADD 27.30
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available