E23R (p.Glu23Arg) variant of MYPN (Myopalladin)
E23R (p.Glu23Arg) in MYPN (Myopalladin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
E23R (p.Glu23Arg) variant details
- p.Glu23Arg
- rs1564640695
- gnomAD 10-68109711-T-TA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.47
- CADD 16.90
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available