E7K (p.Glu7Lys) variant of MYPN (Myopalladin)
E7K (p.Glu7Lys) in MYPN (Myopalladin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
E7K (p.Glu7Lys) variant details
- p.Glu7Lys
- gnomAD 10-68121456-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.6
- CADD 33.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available