R41S (p.Arg41Ser) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
R41S (p.Arg41Ser) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R41S (p.Arg41Ser) variant details
- p.Arg41Ser
- TOPMed rs1327610051
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.16
- CADD 24.30
- PolyPhen-2 0.15
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available