R45H (p.Arg45His) variant of VIM (Vimentin)
R45H (p.Arg45His) in VIM (Vimentin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cataract 30; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R45H (p.Arg45His) variant details
- p.Arg45His
- rs778098458
- ClinGen CA5426356
- ClinVar RCV002040136
- ClinVar RCV005288563
- Uncertain significance
- Cataract 30; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.53
- CADD 26.50
- PolyPhen-2 0.96
- SIFT 0.33
- ClinVar: Uncertain significance (Cataract 30; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available