M515T (p.Met515Thr) variant of MYH7 (Myosin-7)
M515T (p.Met515Thr) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cardiovascular phenotype; Dilated cardiomyopathy 1S; MYH7-related skeletal myopa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
M515T (p.Met515Thr) variant details
- p.Met515Thr
- rs863224900
- ClinGen CA278943
- ClinVar RCV003320136
- ClinVar RCV003586165
- Likely pathogenic
- Cardiovascular phenotype; Dilated cardiomyopathy 1S; MYH7-related skeletal myopa
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- AlphaMissense 0.98
- MetaLR 0.74
- MetaSVM 0.66
- PolyPhen-2 0.78
- SIFT 0.00
- EVE 0.65
- ClinVar: Likely pathogenic (Cardiovascular phenotype; Dilated cardiomyopathy 1S; MYH7-relate)
- EBI: Pathogenic (in CMH1)
- UniProt: Pathogenic (in CMH1)
- Structural context available
- Cited in: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of… (PMID 34012068)
- Cited in: ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of… (PMID 35802134)