R35L (p.Arg35Leu) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
R35L (p.Arg35Leu) 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 Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
R35L (p.Arg35Leu) variant details
- p.Arg35Leu
- rs397515885
- ClinGen CA380341918
- ClinVar RCV002401165
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.39
- ESM-1b 1.00
- AlphaMissense 0.31
- CADD 25.30
- PolyPhen-2 0.60
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available