I40M (p.Ile40Met) variant of PLN (Phospholamban)
I40M (p.Ile40Met) in PLN (Phospholamban) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
I40M (p.Ile40Met) variant details
- p.Ile40Met
- gnomAD 6-118559041-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.71
- MetaLR 0.71
- MetaSVM 0.35
- CADD 21.60
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available