G36R (p.Gly36Arg) variant of APOA5 (Apolipoprotein A-V)
G36R (p.Gly36Arg) in APOA5 (Apolipoprotein A-V) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
G36R (p.Gly36Arg) variant details
- p.Gly36Arg
- ESP rs146323308
- ExAC rs146323308
- TOPMed rs146323308
- gnomAD rs146323308
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.15
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.64
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available