E7A (p.Glu7Ala) variant of MYPN (Myopalladin)
E7A (p.Glu7Ala) in MYPN (Myopalladin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
E7A (p.Glu7Ala) variant details
- p.Glu7Ala
- gnomAD 10-68121458-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.32
- CADD 26.70
- PolyPhen-2 0.91
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available