R50H (p.Arg50His) variant of ID3 (Q02535)
R50H (p.Arg50His) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
R50H (p.Arg50His) variant details
- p.Arg50His
- TOPMed rs1247524620
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.73
- MetaLR 0.94
- MetaSVM 1.06
- CADD 27.30
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available