N104S (p.Asn104Ser) variant of APOH (Beta-2-glycoprotein 1)
N104S (p.Asn104Ser) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
N104S (p.Asn104Ser) variant details
- p.Asn104Ser
- ExAC rs771390376
- gnomAD rs771390376
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.13
- CADD 18.20
- PolyPhen-2 0.04
- SIFT 0.78
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available