N47Y (p.Asn47Tyr) variant of MYL2 (P10916)
N47Y (p.Asn47Tyr) 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 0.45 / 1. The record also includes published literature and structural context.
N47Y (p.Asn47Tyr) variant details
- p.Asn47Tyr
- rs2136774049
- ClinGen CA386699311
- ClinVar RCV001525383
- Ensembl rs2136774049
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- AlphaMissense 0.44
- MetaLR 0.31
- MetaSVM -0.43
- PolyPhen-2 0.95
- SIFT 0.00
- MutPred 0.38
- 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)