L28Q (p.Leu28Gln) variant of PLN (Phospholamban)
L28Q (p.Leu28Gln) 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.
L28Q (p.Leu28Gln) variant details
- p.Leu28Gln
- gnomAD 6-118559004-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.71
- MetaLR 0.58
- MetaSVM 0.28
- CADD 22.70
- PolyPhen-2 0.13
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available