E31D (p.Glu31Asp) variant of MYPN (Myopalladin)
E31D (p.Glu31Asp) in MYPN (Myopalladin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
E31D (p.Glu31Asp) variant details
- p.Glu31Asp
- gnomAD 10-68121531-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.28
- CADD 21.90
- PolyPhen-2 0.98
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available