S72N (p.Ser72Asn) variant of APOB (Apolipoprotein B-100)
S72N (p.Ser72Asn) in APOB (Apolipoprotein B-100) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial hypercholesterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S72N (p.Ser72Asn) variant details
- p.Ser72Asn
- rs759881866
- ClinGen CA345965013
- ClinVar RCV001177981
- ExAC rs759881866
- Uncertain significance
- Familial hypercholesterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.22
- MetaLR 0.26
- MetaSVM -0.75
- CADD 24.00
- PolyPhen-2 0.62
- SIFT 0.40
- ClinVar: Uncertain significance (Familial hypercholesterolemia)
- EBI: Benign
- UniProt: Benign
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)