S35N (p.Ser35Asn) variant of APOA5 (Apolipoprotein A-V)
S35N (p.Ser35Asn) 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 0.36 / 1. The record also includes population frequency data and structural context.
S35N (p.Ser35Asn) variant details
- p.Ser35Asn
- 1000Genomes rs184390502
- ExAC rs184390502
- TOPMed rs184390502
- gnomAD rs184390502
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.27
- CADD 16.90
- PolyPhen-2 0.31
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available