R72G (p.Arg72Gly) variant of ADCY5 (Adenylate cyclase type 5)
R72G (p.Arg72Gly) in ADCY5 (Adenylate cyclase type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R72G (p.Arg72Gly) variant details
- p.Arg72Gly
- gnomAD rs1281450842
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.34
- MetaLR 0.28
- MetaSVM -0.63
- CADD 24.90
- PolyPhen-2 0.47
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available