K27E (p.Lys27Glu) variant of PLN (Phospholamban)
K27E (p.Lys27Glu) 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 0.35 / 1. The record also includes published literature and structural context.
K27E (p.Lys27Glu) variant details
- p.Lys27Glu
- rs2114969956
- ClinGen CA365546331
- ClinVar RCV002050246
- Ensembl rs2114969956
- Uncertain significance
- Dilated cardiomyopathy 1P
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- AlphaMissense 0.13
- MetaLR 0.29
- MetaSVM -0.78
- PolyPhen-2 0.00
- SIFT 0.10
- 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)