R74L (p.Arg74Leu) variant of ADCY5 (Adenylate cyclase type 5)
R74L (p.Arg74Leu) in ADCY5 (Adenylate cyclase type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
R74L (p.Arg74Leu) variant details
- p.Arg74Leu
- ExAC rs755064886
- gnomAD rs755064886
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.47
- MetaLR 0.43
- MetaSVM -0.04
- CADD 25.60
- PolyPhen-2 0.68
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available