L16P (p.Leu16Pro) variant of MYPN (Myopalladin)
L16P (p.Leu16Pro) in MYPN (Myopalladin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiovascular phenotype; Dilated cardiomyopathy 1KK. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
L16P (p.Leu16Pro) variant details
- p.Leu16Pro
- rs1241418398
- ClinGen CA377103499
- ClinVar RCV000655046
- ClinVar RCV001756109
- Uncertain significance
- not provided; Cardiovascular phenotype; Dilated cardiomyopathy 1KK
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.47
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype; Dilated cardiomyopathy 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available