A4V (p.Ala4Val) variant of APOA1 (Apolipoprotein A-I)
A4V (p.Ala4Val) in APOA1 (Apolipoprotein A-I) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- rs1265273561
- ClinGen CA382722494
- cosmic curated COSV52635
- ClinVar RCV001896030
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.08
- AlphaMissense 0.06
- MetaLR 0.05
- MetaSVM -1.02
- CADD 0.47
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available