A90T (p.Ala90Thr) variant of ADCY5 (Adenylate cyclase type 5)
A90T (p.Ala90Thr) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A90T (p.Ala90Thr) variant details
- p.Ala90Thr
- ExAC rs773265276
- gnomAD rs773265276
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.12
- MetaLR 0.15
- MetaSVM -0.99
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 0.73
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00011)
- Structural context available