R7C (p.Arg7Cys) variant of VCL (Vinculin)
R7C (p.Arg7Cys) in VCL (Vinculin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R7C (p.Arg7Cys) variant details
- p.Arg7Cys
- Ensembl rs1840152275
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.20
- CADD 32.00
- PolyPhen-2 0.75
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available