G45S (p.Gly45Ser) variant of MYPN (Myopalladin)
G45S (p.Gly45Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G45S (p.Gly45Ser) variant details
- p.Gly45Ser
- rs1297861595
- ClinGen CA377103674
- cosmic curated COSV62741
- ClinVar RCV000655034
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1KK
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.10
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1KK)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available