T62P (p.Thr62Pro) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
T62P (p.Thr62Pro) 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 Left ventricular noncompaction 10; Cardiovascular phenotype; Hypertrophic cardio. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
T62P (p.Thr62Pro) variant details
- p.Thr62Pro
- rs377225516
- ClinGen CA011327
- ClinVar RCV000035444
- ClinVar RCV000148667
- Conflicting interpretations
- Left ventricular noncompaction 10; Cardiovascular phenotype; Hypertrophic cardio
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 16.50
- PolyPhen-2 0.16
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Left ventricular noncompaction 10; Cardiovascular phenotype; Hyp)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- 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)