Q104R (p.Gln104Arg) variant of ADCY5 (Adenylate cyclase type 5)
Q104R (p.Gln104Arg) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from ClinVar 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 0.28 / 1. The record also includes population frequency data and structural context.
Q104R (p.Gln104Arg) variant details
- p.Gln104Arg
- ExAC rs781642194
- TOPMed rs781642194
- gnomAD rs781642194
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.14
- MetaLR 0.30
- MetaSVM -0.71
- CADD 23.00
- PolyPhen-2 0.04
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available