L71P (p.Leu71Pro) variant of APOA5 (Apolipoprotein A-V)
L71P (p.Leu71Pro) 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 not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes structural context.
L71P (p.Leu71Pro) variant details
- p.Leu71Pro
- rs2134203761
- ClinGen CA382740039
- ClinVar RCV002246970
- Ensembl rs2134203761
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- AlphaMissense 0.42
- MetaLR 0.72
- MetaSVM 0.04
- PolyPhen-2 1.00
- SIFT 0.04
- MutPred 0.53
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available