Y30C (p.Tyr30Cys) variant of VIM (Vimentin)
Y30C (p.Tyr30Cys) in VIM (Vimentin) is a missense change. Clinical records from ClinVar, EBI, 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 0.36 / 1. The record also includes population frequency data and structural context.
Y30C (p.Tyr30Cys) variant details
- p.Tyr30Cys
- rs1846740908
- ClinGen CA376174949
- ClinVar RCV004154722
- TOPMed rs1846740908
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.45
- CADD 23.50
- PolyPhen-2 0.58
- SIFT 0.14
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available