A51V (p.Ala51Val) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
A51V (p.Ala51Val) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A51V (p.Ala51Val) variant details
- p.Ala51Val
- ExAC rs746738538
- gnomAD rs746738538
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 16.40
- PolyPhen-2 0.12
- SIFT 0.06
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available