A4E (p.Ala4Glu) variant of APOA1 (Apolipoprotein A-I)
A4E (p.Ala4Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes structural context.
A4E (p.Ala4Glu) variant details
- p.Ala4Glu
- rs1265273561
- ClinGen CA382722492
- ClinVar RCV003865770
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- AlphaMissense 0.06
- MetaLR 0.05
- MetaSVM -1.02
- PolyPhen-2 0.00
- SIFT 1.00
- EVE 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available