Q29P (p.Gln29Pro) variant of PLN (Phospholamban)
Q29P (p.Gln29Pro) in PLN (Phospholamban) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
Q29P (p.Gln29Pro) variant details
- p.Gln29Pro
- gnomAD 6-118559007-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.84
- MetaLR 0.78
- MetaSVM 0.74
- CADD 24.20
- PolyPhen-2 0.80
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Literature evidence available