E68A (p.Glu68Ala) variant of MYL2 (P10916)
E68A (p.Glu68Ala) in MYL2 (P10916) 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 0.44 / 1. The record also includes structural context.
E68A (p.Glu68Ala) variant details
- p.Glu68Ala
- rs752456288
- ClinGen CA386698794
- ClinVar RCV004303680
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- AlphaMissense 0.16
- MetaLR 0.39
- MetaSVM -0.38
- PolyPhen-2 0.31
- SIFT 0.20
- MutPred 0.40
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available