R20C (p.Arg20Cys) variant of ID3 (Q02535)
R20C (p.Arg20Cys) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
R20C (p.Arg20Cys) variant details
- p.Arg20Cys
- ExAC rs201697476
- TOPMed rs201697476
- gnomAD rs201697476
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.45
- MetaLR 0.22
- MetaSVM -0.53
- CADD 29.50
- PolyPhen-2 0.61
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 0.00086)
- Structural context available