M1I (p.Met1Ile) variant of MYL2 (P10916)
M1I (p.Met1Ile) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial isolated restrictive cardiomyopathy; Hypertrophic cardiomyopathy 10. The record also includes variant effect predictions, population frequency data, published literature, and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1555258369
- ClinGen CA386700390
- ClinVar RCV000513098
- ClinVar RCV000639673
- Conflicting interpretations
- Familial isolated restrictive cardiomyopathy; Hypertrophic cardiomyopathy 10
- Missense
- MetaLR 0.28
- MetaSVM -0.71
- PolyPhen-2 0.01
- SIFT 0.00
- MutPred 0.63
- ClinVar: Conflicting classifications of pathogenicity (Familial isolated restrictive cardiomyopathy; Hypertrophic cardi)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)