A23S (p.Ala23Ser) variant of APOB (Apolipoprotein B-100)
A23S (p.Ala23Ser) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A23S (p.Ala23Ser) variant details
- p.Ala23Ser
- rs2465463680
- ClinGen CA345966104
- ClinVar RCV003887228
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.03
- MetaLR 0.01
- MetaSVM -0.95
- CADD 7.30
- PolyPhen-2 0.01
- SIFT 0.90
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available