Q5P (p.Gln5Pro) variant of PLN (Phospholamban)
Q5P (p.Gln5Pro) in PLN (Phospholamban) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
Q5P (p.Gln5Pro) variant details
- p.Gln5Pro
- gnomAD 6-118558935-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.90
- MetaLR 0.78
- MetaSVM 0.74
- CADD 25.70
- PolyPhen-2 0.80
- SIFT 0.00
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Literature evidence available