S76N (p.Ser76Asn) variant of APOA1 (Apolipoprotein A-I)
S76N (p.Ser76Asn) in APOA1 (Apolipoprotein A-I) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
S76N (p.Ser76Asn) variant details
- p.Ser76Asn
- rs1226109269
- ClinGen CA382717440
- ClinVar RCV002585026
- ClinVar RCV004073385
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.30
- CADD 14.90
- PolyPhen-2 0.24
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available