S3N (p.Ser3Asn) variant of APOA5 (Apolipoprotein A-V)
S3N (p.Ser3Asn) in APOA5 (Apolipoprotein A-V) is a missense change. Clinical records from ClinVar, EBI, 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 0.23 / 1. The record also includes population frequency data and structural context.
S3N (p.Ser3Asn) variant details
- p.Ser3Asn
- rs1183005271
- ClinGen CA382741522
- ClinVar RCV003482034
- TOPMed rs1183005271
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.10
- CADD 7.00
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SHE population (allele frequency 0.056)
- Structural context available