Q66P (p.Gln66Pro) variant of ADCY5 (Adenylate cyclase type 5)
Q66P (p.Gln66Pro) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
Q66P (p.Gln66Pro) variant details
- p.Gln66Pro
- TOPMed rs1945868637
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.28
- MetaLR 0.18
- MetaSVM -1.01
- CADD 17.70
- PolyPhen-2 0.03
- SIFT 0.16
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available