V41A (p.Val41Ala) variant of APOA5 (Apolipoprotein A-V)
V41A (p.Val41Ala) in APOA5 (Apolipoprotein A-V) 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 0.41 / 1. The record also includes structural context.
V41A (p.Val41Ala) variant details
- p.Val41Ala
- rs1177063839
- ClinGen CA382740982
- ClinVar RCV003177594
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- AlphaMissense 0.08
- MetaLR 0.43
- MetaSVM -0.75
- PolyPhen-2 0.00
- SIFT 0.03
- MutPred 0.43
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available