M1V (p.Met1Val) variant of MYL2 (P10916)
M1V (p.Met1Val) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiomyopathy. The record also includes variant effect predictions, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs876661378
- ClinGen CA10581165
- ClinVar RCV000223736
- ClinVar RCV005401385
- Uncertain significance
- not provided; Cardiomyopathy
- Missense
- MetaLR 0.34
- MetaSVM -0.49
- PolyPhen-2 0.01
- SIFT 0.00
- MutPred 0.61
- ClinVar: Uncertain significance (not provided; 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)