R50C (p.Arg50Cys) variant of ID3 (Q02535)
R50C (p.Arg50Cys) in ID3 (Q02535) 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 0.76 / 1. The record also includes population frequency data and structural context.
R50C (p.Arg50Cys) variant details
- p.Arg50Cys
- ExAC rs770537277
- TOPMed rs770537277
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.73
- MetaLR 0.90
- MetaSVM 0.83
- CADD 26.10
- PolyPhen-2 0.07
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available