M69I (p.Met69Ile) variant of MYL2 (P10916)
M69I (p.Met69Ile) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Cardiomyopathy; Hypertrophic cardiomyopathy 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
M69I (p.Met69Ile) variant details
- p.Met69Ile
- rs866041854
- ClinGen CA386698784
- ClinVar RCV000554010
- ClinVar RCV004984960
- Uncertain significance
- Cardiovascular phenotype; Cardiomyopathy; Hypertrophic cardiomyopathy 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.86
- CADD 25.60
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiomyopathy; Hypertrophic cardiomyo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)