K52N (p.Lys52Asn) variant of APOH (Beta-2-glycoprotein 1)
K52N (p.Lys52Asn) in APOH (Beta-2-glycoprotein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
K52N (p.Lys52Asn) variant details
- p.Lys52Asn
- TOPMed rs1017001765
- gnomAD rs1017001765
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.12
- CADD 17.50
- PolyPhen-2 0.13
- SIFT 0.15
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available