R34* (p.Arg34Ter) variant of MYPN (Myopalladin)
R34* (p.Arg34Ter) in MYPN (Myopalladin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
R34* (p.Arg34Ter) variant details
- p.Arg34Ter
- rs746431976
- cosmic curated COSV10650
- ExAC rs746431976
- TOPMed rs746431976
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.632
- CADD 37.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available