I38T (p.Ile38Thr) variant of PLN (Phospholamban)
I38T (p.Ile38Thr) in PLN (Phospholamban) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1P. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
I38T (p.Ile38Thr) variant details
- p.Ile38Thr
- rs1554219862
- ClinGen CA365546538
- ClinVar RCV000639860
- Ensembl rs1554219862
- Uncertain significance
- Dilated cardiomyopathy 1P
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.84
- MetaLR 0.78
- MetaSVM 0.74
- CADD 25.20
- PolyPhen-2 0.80
- SIFT 0.00
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1P)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)