I12T (p.Ile12Thr) variant of MYPN (Myopalladin)
I12T (p.Ile12Thr) in MYPN (Myopalladin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of MYPN-related myopathy; Dilated cardiomyopathy 1KK; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
I12T (p.Ile12Thr) variant details
- p.Ile12Thr
- rs869025490
- ClinGen CA351882
- NCI-TCGA Cosmic COSV6273
- cosmic curated COSV62731
- Uncertain significance
- MYPN-related myopathy; Dilated cardiomyopathy 1KK; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.21
- CADD 25.90
- PolyPhen-2 0.75
- SIFT 0.00
- ClinVar: Uncertain significance (MYPN-related myopathy; Dilated cardiomyopathy 1KK; Cardiovascula)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic… (PMID 14607462)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)