R32E (p.Arg32Glu) variant of MYPN (Myopalladin)
R32E (p.Arg32Glu) in MYPN (Myopalladin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R32E (p.Arg32Glu) variant details
- p.Arg32Glu
- rs1401491606
- gnomAD 10-68121528-TGA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Literature evidence available