A12E (p.Ala12Glu) variant of MYH6 (Myosin-6)
A12E (p.Ala12Glu) 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 0.81 / 1. The record also includes population frequency data and structural context.
A12E (p.Ala12Glu) variant details
- p.Ala12Glu
- ExAC rs562487638
- TOPMed rs562487638
- gnomAD rs562487638
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.84
- CADD 25.30
- PolyPhen-2 0.81
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available