G29E (p.Gly29Glu) variant of ID3 (Q02535)
G29E (p.Gly29Glu) in ID3 (Q02535) is a missense change. Clinical records from ClinVar 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 0.28 / 1. The record also includes population frequency data.
G29E (p.Gly29Glu) variant details
- p.Gly29Glu
- Ensembl rs1643690019
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.04
- MetaLR 0.15
- MetaSVM -0.97
- CADD 19.80
- PolyPhen-2 0.07
- SIFT 0.63
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)