V59I (p.Val59Ile) variant of MYH6 (Myosin-6)
V59I (p.Val59Ile) in MYH6 (Myosin-6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
V59I (p.Val59Ile) variant details
- p.Val59Ile
- ESP rs377029781
- ExAC rs377029781
- TOPMed rs377029781
- gnomAD rs377029781
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.28
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.27
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available