I95T (p.Ile95Thr) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
I95T (p.Ile95Thr) 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 not specified; not provided; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
I95T (p.Ile95Thr) variant details
- p.Ile95Thr
- rs727504945
- ClinGen CA013055
- ClinVar RCV000156346
- ClinVar RCV000766605
- Conflicting interpretations
- not specified; not provided; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.074
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 5.79
- PolyPhen-2 0.00
- SIFT 0.50
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)