M1K (p.Met1Lys) variant of MYL3 (Myosin light chain 3)
M1K (p.Met1Lys) in MYL3 (Myosin light chain 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Dilated cardiomyopathy 1U. The record also includes variant effect predictions, population frequency data, published literature, and structural context.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs1282347222
- ClinGen CA352499998
- ClinVar RCV002435640
- ClinVar RCV005860310
- Conflicting interpretations
- Cardiovascular phenotype; Dilated cardiomyopathy 1U
- Missense
- MetaLR 0.60
- MetaSVM -0.36
- PolyPhen-2 0.81
- SIFT 0.00
- MutPred 0.57
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Dilated cardiomyopathy 1U)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)