R8H (p.Arg8His) variant of ID3 (Q02535)
R8H (p.Arg8His) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data.
R8H (p.Arg8His) variant details
- p.Arg8His
- ExAC rs755804779
- TOPMed rs755804779
- gnomAD rs755804779
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.69
- MetaLR 0.60
- MetaSVM 0.19
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)