T65M (p.Thr65Met) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
T65M (p.Thr65Met) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hypertrophic cardiomyopathy; Cardiovascular phenotype; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
T65M (p.Thr65Met) variant details
- p.Thr65Met
- rs753300898
- ClinGen CA047700
- NCI-TCGA Cosmic COSV5703
- cosmic curated COSV57030
- Conflicting interpretations
- Hypertrophic cardiomyopathy; Cardiovascular phenotype; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.35
- ESM-1b 0.85
- AlphaMissense 0.17
- CADD 22.80
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Hypertrophic cardiomyopathy; Cardiovascular phenotype; not speci)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- 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)