A51G (p.Ala51Gly) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
A51G (p.Ala51Gly) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A51G (p.Ala51Gly) variant details
- p.Ala51Gly
- ExAC rs746738538
- gnomAD rs746738538
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.19
- CADD 16.00
- PolyPhen-2 0.08
- SIFT 0.14
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available