N75D (p.Asn75Asp) variant of APOH (Beta-2-glycoprotein 1)
N75D (p.Asn75Asp) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
N75D (p.Asn75Asp) variant details
- p.Asn75Asp
- ExAC rs752710676
- gnomAD rs752710676
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.12
- CADD 23.60
- PolyPhen-2 0.33
- SIFT 0.03
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available