V59A (p.Val59Ala) variant of MYL2 (P10916)
V59A (p.Val59Ala) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes structural context.
V59A (p.Val59Ala) variant details
- p.Val59Ala
- rs2071674771
- ClinGen CA386698859
- ClinVar RCV004013122
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- AlphaMissense 0.53
- MetaLR 0.20
- MetaSVM -0.47
- PolyPhen-2 0.86
- SIFT 0.01
- MutPred 0.57
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available