S35G (p.Ser35Gly) variant of APOA5 (Apolipoprotein A-V)
S35G (p.Ser35Gly) 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 0.31 / 1. The record also includes population frequency data and structural context.
S35G (p.Ser35Gly) variant details
- p.Ser35Gly
- ExAC rs765565265
- TOPMed rs765565265
- gnomAD rs765565265
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.21
- CADD 17.80
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00038)
- Structural context available