Q22H (p.Gln22His) variant of PLN (Phospholamban)
Q22H (p.Gln22His) in PLN (Phospholamban) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
Q22H (p.Gln22His) variant details
- p.Gln22His
- gnomAD 6-118558987-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.45
- MetaLR 0.32
- MetaSVM -0.67
- CADD 21.30
- PolyPhen-2 0.15
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available