S49R (p.Ser49Arg) variant of VIM (Vimentin)
S49R (p.Ser49Arg) in VIM (Vimentin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S49R (p.Ser49Arg) variant details
- p.Ser49Arg
- gnomAD rs1367516245
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.41
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 0.13
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available