S7P (p.Ser7Pro) variant of HCN4 (Q9Y3Q4)
S7P (p.Ser7Pro) in HCN4 (Q9Y3Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
S7P (p.Ser7Pro) variant details
- p.Ser7Pro
- Ensembl rs2043139740
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.46
- MetaLR 0.85
- MetaSVM 0.51
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available