P5Q (p.Pro5Gln) variant of HCN4 (Q9Y3Q4)
P5Q (p.Pro5Gln) in HCN4 (Q9Y3Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
P5Q (p.Pro5Gln) variant details
- p.Pro5Gln
- TOPMed rs927046568
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.33
- MetaLR 0.73
- MetaSVM 0.57
- CADD 18.90
- PolyPhen-2 0.02
- SIFT 0.13
- Population evidence available
- Structural context available