L57P (p.Leu57Pro) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
L57P (p.Leu57Pro) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
L57P (p.Leu57Pro) variant details
- p.Leu57Pro
- gnomAD rs1307586978
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.50
- ESM-1b 0.18
- AlphaMissense 0.74
- CADD 24.20
- PolyPhen-2 0.96
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available