Q23P (p.Gln23Pro) variant of PLN (Phospholamban)
Q23P (p.Gln23Pro) in PLN (Phospholamban) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
Q23P (p.Gln23Pro) variant details
- p.Gln23Pro
- gnomAD 6-118558989-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.86
- MetaLR 0.54
- MetaSVM 0.05
- CADD 23.90
- PolyPhen-2 0.05
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available