R26G (p.Arg26Gly) variant of ID3 (Q02535)
R26G (p.Arg26Gly) in ID3 (Q02535) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data.
R26G (p.Arg26Gly) variant details
- p.Arg26Gly
- ESP rs371594384
- ExAC rs371594384
- TOPMed rs371594384
- gnomAD rs371594384
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.58
- MetaLR 0.55
- MetaSVM 0.10
- CADD 25.40
- PolyPhen-2 0.97
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)