D29N (p.Asp29Asn) variant of APOA5 (Apolipoprotein A-V)
D29N (p.Asp29Asn) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
D29N (p.Asp29Asn) variant details
- p.Asp29Asn
- rs139630081
- ClinGen CA6289162
- ClinVar RCV002447987
- ClinVar RCV003103518
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.31
- CADD 22.80
- PolyPhen-2 0.20
- SIFT 0.08
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.1e-05)
- Structural context available