E61D (p.Glu61Asp) variant of APOA5 (Apolipoprotein A-V)
E61D (p.Glu61Asp) in APOA5 (Apolipoprotein A-V) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes structural context.
E61D (p.Glu61Asp) variant details
- p.Glu61Asp
- rs866269244
- NCI-TCGA Cosmic COSV9991
- cosmic curated COSV99911
- gnomAD rs866269244
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- AlphaMissense 0.28
- MetaLR 0.57
- MetaSVM -0.26
- PolyPhen-2 0.86
- SIFT 0.27
- MutPred 0.47
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available