P47L (p.Pro47Leu) variant of MYPN (Myopalladin)
P47L (p.Pro47Leu) in MYPN (Myopalladin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Dilated cardiomyopathy 1KK; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
P47L (p.Pro47Leu) variant details
- p.Pro47Leu
- rs777446804
- ClinGen CA5522234
- cosmic curated COSV62739
- ClinVar RCV000802243
- Conflicting interpretations
- Cardiovascular phenotype; Dilated cardiomyopathy 1KK; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.07
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Dilated cardiomyopathy 1KK; not provid)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00052)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)