R23W (p.Arg23Trp) variant of ADCY5 (Adenylate cyclase type 5)
R23W (p.Arg23Trp) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R23W (p.Arg23Trp) variant details
- p.Arg23Trp
- 1000Genomes rs1209746484
- TOPMed rs1209746484
- gnomAD rs1209746484
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.30
- MetaLR 0.25
- MetaSVM -0.78
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.02
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available