R50A (p.Arg50Ala) variant of VIM (Vimentin)
R50A (p.Arg50Ala) in VIM (Vimentin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R50A (p.Arg50Ala) variant details
- p.Arg50Ala
- rs1229957937
- gnomAD 10-17229568-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.385
- CADD 25.70
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available