Q23E (p.Gln23Glu) variant of PLN (Phospholamban)
Q23E (p.Gln23Glu) in PLN (Phospholamban) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes structural context.
Q23E (p.Gln23Glu) variant details
- p.Gln23Glu
- rs876657955
- ClinGen CA10576678
- ClinVar RCV000216465
- Ensembl rs876657955
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- AlphaMissense 0.06
- MetaLR 0.58
- MetaSVM -0.05
- PolyPhen-2 0.01
- SIFT 0.02
- EVE 0.10
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available