L43W (p.Leu43Trp) variant of PLN (Phospholamban)
L43W (p.Leu43Trp) in PLN (Phospholamban) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
L43W (p.Leu43Trp) variant details
- p.Leu43Trp
- gnomAD 6-118559049-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.87
- MetaLR 0.85
- MetaSVM 0.90
- CADD 26.50
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Literature evidence available