R68P (p.Arg68Pro) variant of ADCY5 (Adenylate cyclase type 5)
R68P (p.Arg68Pro) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R68P (p.Arg68Pro) variant details
- p.Arg68Pro
- rs776480737
- ClinGen CA2577731
- ClinVar RCV001794739
- ExAC rs776480737
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.28
- MetaLR 0.28
- MetaSVM -0.62
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available