P47R (p.Pro47Arg) variant of MYPN (Myopalladin)
P47R (p.Pro47Arg) in MYPN (Myopalladin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1KK. The record also includes structural context.
P47R (p.Pro47Arg) variant details
- p.Pro47Arg
- rs777446804
- ClinGen CA377103689
- ClinVar RCV001039842
- ExAC rs777446804
- Uncertain significance
- Dilated cardiomyopathy 1KK
- Missense
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1KK)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available