E2K (p.Glu2Lys) variant of PLN (Phospholamban)
E2K (p.Glu2Lys) in PLN (Phospholamban) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
E2K (p.Glu2Lys) variant details
- p.Glu2Lys
- gnomAD 6-118558925-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.58
- MetaLR 0.58
- MetaSVM -0.02
- CADD 24.20
- PolyPhen-2 0.05
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available