Q27H (p.Gln27His) variant of MYL2 (P10916)
Q27H (p.Gln27His) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
Q27H (p.Gln27His) variant details
- p.Gln27His
- rs1566150393
- ClinGen CA386700216
- ClinVar RCV000769370
- Ensembl rs1566150393
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- AlphaMissense 0.94
- MetaLR 0.63
- MetaSVM 0.24
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.44
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)