Q5H (p.Gln5His) variant of PLN (Phospholamban)
Q5H (p.Gln5His) in PLN (Phospholamban) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
Q5H (p.Gln5His) variant details
- p.Gln5His
- gnomAD 6-118558936-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.77
- MetaLR 0.75
- MetaSVM 0.59
- CADD 22.80
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Literature evidence available