S7Y (p.Ser7Tyr) variant of HCN4 (Q9Y3Q4)
S7Y (p.Ser7Tyr) in HCN4 (Q9Y3Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
S7Y (p.Ser7Tyr) variant details
- p.Ser7Tyr
- TOPMed rs1240695970
- gnomAD rs1240695970
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.55
- MetaLR 0.93
- MetaSVM 1.03
- CADD 25.50
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available