I95L (p.Ile95Leu) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
I95L (p.Ile95Leu) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
I95L (p.Ile95Leu) variant details
- p.Ile95Leu
- rs549758428
- ClinGen CA051645
- ClinVar RCV001103398
- ClinVar RCV001105313
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.0927
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.19
- CADD 14.10
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- 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)