R12C (p.Arg12Cys) variant of VIM (Vimentin)
R12C (p.Arg12Cys) in VIM (Vimentin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
R12C (p.Arg12Cys) variant details
- p.Arg12Cys
- cosmic curated COSV10730
- gnomAD rs1220895620
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.69
- CADD 25.70
- PolyPhen-2 0.21
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available