Y6D (p.Tyr6Asp) variant of PLN (Phospholamban)
Y6D (p.Tyr6Asp) in PLN (Phospholamban) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
Y6D (p.Tyr6Asp) variant details
- p.Tyr6Asp
- ExAC rs780082801
- TOPMed rs780082801
- gnomAD rs780082801
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.52
- MetaLR 0.42
- MetaSVM -0.52
- CADD 17.20
- PolyPhen-2 0.07
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available