R50H (p.Arg50His) variant of VIM (Vimentin)
R50H (p.Arg50His) in VIM (Vimentin) 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 0.62 / 1. The record also includes population frequency data and structural context.
R50H (p.Arg50His) variant details
- p.Arg50His
- rs11545553
- NCI-TCGA Cosmic COSV5640
- cosmic curated COSV56405
- TOPMed rs11545553
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.51
- CADD 27.60
- PolyPhen-2 0.86
- SIFT 0.20
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available