I18M (p.Ile18Met) variant of PLN (Phospholamban)
I18M (p.Ile18Met) in PLN (Phospholamban) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
I18M (p.Ile18Met) variant details
- p.Ile18Met
- gnomAD 6-118558975-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.31
- MetaLR 0.35
- MetaSVM -0.59
- CADD 21.30
- PolyPhen-2 0.01
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available