I12T (p.Ile12Thr) variant of PLN (Phospholamban)
I12T (p.Ile12Thr) in PLN (Phospholamban) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1P. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
I12T (p.Ile12Thr) variant details
- p.Ile12Thr
- rs771044756
- ClinGen CA3977970
- ClinVar RCV002455196
- ClinVar RCV003234177
- Uncertain significance
- Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1P
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.67
- MetaLR 0.52
- MetaSVM -0.03
- CADD 23.90
- PolyPhen-2 0.11
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)