E28K (p.Glu28Lys) variant of MYL2 (P10916)
E28K (p.Glu28Lys) in MYL2 (P10916) 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 0.77 / 1. The record also includes structural context.
E28K (p.Glu28Lys) variant details
- p.Glu28Lys
- rs397516409
- ClinGen CA010532
- ClinVar RCV000036411
- Ensembl rs397516409
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- AlphaMissense 0.99
- MetaLR 0.71
- MetaSVM 0.68
- PolyPhen-2 0.94
- SIFT 0.02
- MutPred 0.72
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available