R11Q (p.Arg11Gln) variant of HCN4 (Q9Y3Q4)
R11Q (p.Arg11Gln) in HCN4 (Q9Y3Q4) 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 0.64 / 1. The record also includes population frequency data and structural context.
R11Q (p.Arg11Gln) variant details
- p.Arg11Gln
- NCI-TCGA Cosmic COSV9998
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.50
- MetaLR 0.94
- MetaSVM 1.06
- CADD 24.30
- PolyPhen-2 0.78
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available