P107S (p.Pro107Ser) variant of APOB (Apolipoprotein B-100)
P107S (p.Pro107Ser) in APOB (Apolipoprotein B-100) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
P107S (p.Pro107Ser) variant details
- p.Pro107Ser
- rs748863083
- ClinGen CA058238
- ClinVar RCV002558950
- ExAC rs748863083
- Conflicting interpretations
- Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autosomal dominant, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.04
- MetaLR 0.01
- MetaSVM -0.94
- CADD 13.50
- PolyPhen-2 0.01
- SIFT 0.34
- ClinVar: Conflicting classifications of pathogenicity (Familial hypobetalipoproteinemia 1; Hypercholesterolemia, autoso)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: APOB-Related Familial Hypobetalipoproteinemia. (PMID 33983694)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)