N75S (p.Asn75Ser) variant of APOH (Beta-2-glycoprotein 1)
N75S (p.Asn75Ser) in APOH (Beta-2-glycoprotein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
N75S (p.Asn75Ser) variant details
- p.Asn75Ser
- rs138225887
- ClinGen CA8720492
- ClinVar RCV000950824
- 1000Genomes rs138225887
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.10
- CADD 20.50
- PolyPhen-2 0.20
- SIFT 0.05
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available