D109G (p.Asp109Gly) variant of ADCY5 (Adenylate cyclase type 5)
D109G (p.Asp109Gly) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from ClinVar, EBI, 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 0.27 / 1. The record also includes population frequency data and structural context.
D109G (p.Asp109Gly) variant details
- p.Asp109Gly
- rs1373192640
- ClinGen CA354358339
- ClinVar RCV002730680
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.13
- MetaLR 0.21
- MetaSVM -0.83
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.2e-06)
- Structural context available