S7T (p.Ser7Thr) variant of HCN4 (Q9Y3Q4)
S7T (p.Ser7Thr) in HCN4 (Q9Y3Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
S7T (p.Ser7Thr) variant details
- p.Ser7Thr
- Ensembl rs2043139740
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.39
- MetaLR 0.88
- MetaSVM 0.78
- CADD 24.30
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available