R8C (p.Arg8Cys) variant of ID3 (Q02535)
R8C (p.Arg8Cys) in ID3 (Q02535) 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 0.66 / 1. The record also includes population frequency data.
R8C (p.Arg8Cys) variant details
- p.Arg8Cys
- rs1643691416
- ClinGen CA338991739
- ClinVar RCV004257742
- TOPMed rs1643691416
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.62
- MetaLR 0.47
- MetaSVM -0.13
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)