S47R (p.Ser47Arg) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
S47R (p.Ser47Arg) 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 0.09 / 1. The record also includes population frequency data and structural context.
S47R (p.Ser47Arg) variant details
- p.Ser47Arg
- gnomAD rs1267396024
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0943
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.42
- CADD 0.03
- PolyPhen-2 0.29
- SIFT 0.12
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available