G9R (p.Gly9Arg) variant of ALDH2 (P05091)
G9R (p.Gly9Arg) in ALDH2 (P05091) 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 0.19 / 1. The record also includes population frequency data and structural context.
G9R (p.Gly9Arg) variant details
- p.Gly9Arg
- TOPMed rs1311306580
- gnomAD rs1311306580
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.17
- CADD 11.90
- PolyPhen-2 0.00
- SIFT 0.47
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available