L120P (p.Leu120Pro) variant of MYH6 (Myosin-6)
L120P (p.Leu120Pro) in MYH6 (Myosin-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
L120P (p.Leu120Pro) variant details
- p.Leu120Pro
- TOPMed rs1891752094
- gnomAD rs1891752094
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.94
- CADD 28.60
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available