R72H (p.Arg72His) variant of ADCY5 (Adenylate cyclase type 5)
R72H (p.Arg72His) 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 0.43 / 1. The record also includes population frequency data and structural context.
R72H (p.Arg72His) variant details
- p.Arg72His
- ExAC rs771931187
- TOPMed rs771931187
- gnomAD rs771931187
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.38
- MetaLR 0.37
- MetaSVM -0.26
- CADD 25.30
- PolyPhen-2 0.63
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available