Q29H (p.Gln29His) variant of PLN (Phospholamban)
Q29H (p.Gln29His) in PLN (Phospholamban) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
Q29H (p.Gln29His) variant details
- p.Gln29His
- rs1779072179
- ClinGen CA365546367
- ClinVar RCV003368294
- TOPMed rs1779072179
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.71
- MetaLR 0.81
- MetaSVM 0.77
- CADD 23.60
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available