R17L (p.Arg17Leu) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
R17L (p.Arg17Leu) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R17L (p.Arg17Leu) variant details
- p.Arg17Leu
- ESP rs374630007
- ExAC rs374630007
- TOPMed rs374630007
- gnomAD rs374630007
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.30
- ESM-1b 0.63
- AlphaMissense 0.31
- CADD 23.70
- PolyPhen-2 0.30
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available