T8P (p.Thr8Pro) variant of PLN (Phospholamban)
T8P (p.Thr8Pro) 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 0.75 / 1. The record also includes published literature and structural context.
T8P (p.Thr8Pro) variant details
- p.Thr8Pro
- rs1060502977
- ClinGen CA16611885
- ClinVar RCV000466823
- Ensembl rs1060502977
- Uncertain significance
- Dilated cardiomyopathy 1P
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- AlphaMissense 0.38
- MetaLR 0.82
- MetaSVM 0.84
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.67
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1P)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)