N66D (p.Asn66Asp) variant of APOA5 (Apolipoprotein A-V)
N66D (p.Asn66Asp) 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 Cardiovascular phenotype. 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.
N66D (p.Asn66Asp) variant details
- p.Asn66Asp
- rs2540245045
- ClinGen CA382740223
- ClinVar RCV002423451
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.10
- CADD 8.89
- PolyPhen-2 0.01
- SIFT 0.43
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available