I12V (p.Ile12Val) variant of MYPN (Myopalladin)
I12V (p.Ile12Val) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
I12V (p.Ile12Val) variant details
- p.Ile12Val
- rs1564646814
- ClinGen CA377103473
- ClinVar RCV001996677
- ClinVar RCV002458865
- Uncertain significance
- Dilated cardiomyopathy 1KK; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- MetaLR 0.08
- MetaSVM -1.04
- CADD 14.00
- SIFT 0.17
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1KK; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available