R68G (p.Arg68Gly) variant of ADCY5 (Adenylate cyclase type 5)
R68G (p.Arg68Gly) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R68G (p.Arg68Gly) variant details
- p.Arg68Gly
- gnomAD rs1348937614
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.39
- MetaLR 0.30
- MetaSVM -0.47
- CADD 23.40
- PolyPhen-2 0.09
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available