R20H (p.Arg20His) variant of ID3 (Q02535)
R20H (p.Arg20His) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R20H (p.Arg20His) variant details
- p.Arg20His
- 1000Genomes rs200199499
- ExAC rs200199499
- TOPMed rs200199499
- gnomAD rs200199499
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.16
- MetaLR 0.09
- MetaSVM -0.93
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.78
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available