R26W (p.Arg26Trp) variant of ID3 (Q02535)
R26W (p.Arg26Trp) in ID3 (Q02535) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data.
R26W (p.Arg26Trp) variant details
- p.Arg26Trp
- rs371594384
- ClinGen CA683686
- ClinVar RCV004350574
- ESP rs371594384
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.64
- MetaLR 0.61
- MetaSVM 0.30
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00013)