A11T (p.Ala11Thr) variant of PLN (Phospholamban)
A11T (p.Ala11Thr) 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 0.65 / 1. The record also includes published literature and structural context.
A11T (p.Ala11Thr) variant details
- p.Ala11Thr
- rs2114969616
- ClinGen CA365546053
- ClinVar RCV001888883
- Ensembl rs2114969616
- Uncertain significance
- Dilated cardiomyopathy 1P
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- AlphaMissense 0.36
- MetaLR 0.86
- MetaSVM 0.86
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.15
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1P)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)