E31K (p.Glu31Lys) variant of MYPN (Myopalladin)
E31K (p.Glu31Lys) in MYPN (Myopalladin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
E31K (p.Glu31Lys) variant details
- p.Glu31Lys
- TOPMed rs1159043726
- gnomAD rs1159043726
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.32
- CADD 28.90
- PolyPhen-2 0.98
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available