A13V (p.Ala13Val) variant of APOB (Apolipoprotein B-100)
A13V (p.Ala13Val) 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 Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- rs933648948
- ClinGen CA43470276
- cosmic curated COSV10585
- ClinVar RCV002357456
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.05
- MetaLR 0.01
- MetaSVM -0.97
- CADD 14.40
- PolyPhen-2 0.01
- SIFT 0.15
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available