R5C (p.Arg5Cys) variant of ITGB4 (Integrin beta-4)
R5C (p.Arg5Cys) in ITGB4 (Integrin beta-4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
R5C (p.Arg5Cys) variant details
- p.Arg5Cys
- rs141077392
- ESP rs141077392
- ExAC rs141077392
- TOPMed rs141077392
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0957
- REVEL 0.12
- CADD 0.47
- PolyPhen-2 0.00
- SIFT 0.30
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available