E2D (p.Glu2Asp) variant of PLN (Phospholamban)
E2D (p.Glu2Asp) in PLN (Phospholamban) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
E2D (p.Glu2Asp) variant details
- p.Glu2Asp
- Ensembl rs1583047436
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.18
- MetaLR 0.34
- MetaSVM -0.76
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available