D63N (p.Asp63Asn) variant of APOA5 (Apolipoprotein A-V)
D63N (p.Asp63Asn) in APOA5 (Apolipoprotein A-V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
D63N (p.Asp63Asn) variant details
- p.Asp63Asn
- gnomAD 11-116791042-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.13
- CADD 16.60
- PolyPhen-2 0.02
- SIFT 0.43
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available