M1T (p.Met1Thr) variant of PLN (Phospholamban)
M1T (p.Met1Thr) in PLN (Phospholamban) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; Dilated cardiomyopathy 1P. The record also includes variant effect predictions, published literature, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs727503374
- ClinGen CA177643
- ClinVar RCV000151663
- ClinVar RCV005089739
- Conflicting interpretations
- Cardiovascular phenotype; not specified; Dilated cardiomyopathy 1P
- Missense
- MetaLR 0.78
- MetaSVM 0.72
- PolyPhen-2 0.65
- SIFT 0.00
- MutPred 0.60
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; Dilated cardiomyopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)