I38L (p.Ile38Leu) variant of PLN (Phospholamban)
I38L (p.Ile38Leu) in PLN (Phospholamban) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
I38L (p.Ile38Leu) variant details
- p.Ile38Leu
- gnomAD 6-118559033-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.69
- MetaLR 0.62
- MetaSVM 0.35
- CADD 23.40
- PolyPhen-2 0.39
- SIFT 0.00
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Literature evidence available