P58T (p.Pro58Thr) variant of HCN4 (Q9Y3Q4)
P58T (p.Pro58Thr) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
P58T (p.Pro58Thr) variant details
- p.Pro58Thr
- TOPMed rs1029043200
- gnomAD rs1029043200
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.19
- MetaLR 0.75
- MetaSVM 0.17
- CADD 18.60
- PolyPhen-2 0.01
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available