N104D (p.Asn104Asp) variant of APOH (Beta-2-glycoprotein 1)
N104D (p.Asn104Asp) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
N104D (p.Asn104Asp) variant details
- p.Asn104Asp
- ExAC rs774860125
- TOPMed rs774860125
- gnomAD rs774860125
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.22
- CADD 24.20
- PolyPhen-2 0.71
- SIFT 0.06
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available