E36D (p.Glu36Asp) variant of MYH6 (Myosin-6)
E36D (p.Glu36Asp) in MYH6 (Myosin-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
E36D (p.Glu36Asp) variant details
- p.Glu36Asp
- gnomAD rs1223271745
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.18
- CADD 12.90
- PolyPhen-2 0.01
- SIFT 0.29
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available