D29N (p.Asp29Asn) variant of APOC2 (Apolipoprotein C-II)
D29N (p.Asp29Asn) in APOC2 (Apolipoprotein C-II) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Familial apolipoprotein C-II deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
D29N (p.Asp29Asn) variant details
- p.Asp29Asn
- rs147242592
- ClinGen CA9506603
- ClinVar RCV001134431
- ClinVar RCV001700702
- Conflicting interpretations
- not provided; Familial apolipoprotein C-II deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.41
- CADD 23.30
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Familial apolipoprotein C-II deficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MANDENKA population (allele frequency 0.025)
- Structural context available