C51R (p.Cys51Arg) variant of ITGB4 (Integrin beta-4)
C51R (p.Cys51Arg) 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.
C51R (p.Cys51Arg) variant details
- p.Cys51Arg
- ExAC rs749736808
- TOPMed rs749736808
- gnomAD rs749736808
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.97
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available