D65N (p.Asp65Asn) variant of APOC3 (Apolipoprotein C-III)
D65N (p.Asp65Asn) in APOC3 (Apolipoprotein C-III) 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 0.20 / 1. The record also includes population frequency data and structural context.
D65N (p.Asp65Asn) variant details
- p.Asp65Asn
- rs149707394
- ClinGen CA6289685
- cosmic curated COSV10718
- ClinVar RCV001970954
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.15
- CADD 16.20
- PolyPhen-2 0.02
- SIFT 0.22
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available