P22L (p.Pro22Leu) variant of HCN1 (O60741)
P22L (p.Pro22Leu) in HCN1 (O60741) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
P22L (p.Pro22Leu) variant details
- p.Pro22Leu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.16
- AlphaMissense 0.81
- MetaLR 0.88
- MetaSVM 0.97
- CADD 20.90
- PolyPhen-2 0.99
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available