E36Q (p.Glu36Gln) variant of MYPN (Myopalladin)
E36Q (p.Glu36Gln) in MYPN (Myopalladin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Dilated cardiomyopathy 1KK; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
E36Q (p.Glu36Gln) variant details
- p.Glu36Gln
- rs768904251
- ClinGen CA5522226
- ClinVar RCV001568701
- ClinVar RCV001866010
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1KK; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.11
- CADD 25.10
- PolyPhen-2 0.45
- SIFT 0.03
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1KK; not provid)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available