M20V (p.Met20Val) variant of MYL2 (P10916)
M20V (p.Met20Val) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy; Hypertrophic cardiomyopathy 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
M20V (p.Met20Val) variant details
- p.Met20Val
- rs199474816
- ClinGen CA043462
- ClinVar RCV001178039
- ClinVar RCV003629155
- Uncertain significance
- Cardiomyopathy; Hypertrophic cardiomyopathy 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- AlphaMissense 0.33
- MetaLR 0.46
- MetaSVM -0.21
- PolyPhen-2 0.01
- SIFT 0.00
- MutPred 0.53
- ClinVar: Uncertain significance (Cardiomyopathy; Hypertrophic cardiomyopathy 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)