Q5R (p.Gln5Arg) variant of PLN (Phospholamban)
Q5R (p.Gln5Arg) 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 0.64 / 1. The record also includes structural context.
Q5R (p.Gln5Arg) variant details
- p.Gln5Arg
- rs876657954
- ClinGen CA10576677
- ClinVar RCV000222681
- Ensembl rs876657954
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- AlphaMissense 0.14
- MetaLR 0.76
- MetaSVM 0.69
- PolyPhen-2 0.81
- SIFT 0.00
- MutPred 0.66
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available