M113I (p.Met113Ile) variant of MYH6 (Myosin-6)
M113I (p.Met113Ile) in MYH6 (Myosin-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
M113I (p.Met113Ile) variant details
- p.Met113Ile
- ESP rs150745354
- ExAC rs150745354
- TOPMed rs150745354
- gnomAD rs150745354
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.50
- CADD 19.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available