Q29K (p.Gln29Lys) variant of PLN (Phospholamban)
Q29K (p.Gln29Lys) in PLN (Phospholamban) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
Q29K (p.Gln29Lys) variant details
- p.Gln29Lys
- gnomAD 6-118559006-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.68
- MetaLR 0.76
- MetaSVM 0.65
- CADD 21.90
- PolyPhen-2 0.62
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available