H28Q (p.His28Gln) variant of ADCY5 (Adenylate cyclase type 5)
H28Q (p.His28Gln) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
H28Q (p.His28Gln) variant details
- p.His28Gln
- rs1007815586
- TOPMed rs1007815586
- gnomAD rs1007815586
- ClinGen CA354358952
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.28
- MetaLR 0.20
- MetaSVM -1.07
- CADD 19.60
- PolyPhen-2 0.12
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available