R68L (p.Arg68Leu) variant of ADCY5 (Adenylate cyclase type 5)
R68L (p.Arg68Leu) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
R68L (p.Arg68Leu) variant details
- p.Arg68Leu
- ExAC rs776480737
- TOPMed rs776480737
- gnomAD rs776480737
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.35
- MetaLR 0.27
- MetaSVM -0.50
- CADD 22.90
- PolyPhen-2 0.09
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:HEZHEN population (allele frequency 0.062)
- Structural context available