T54A (p.Thr54Ala) variant of ADCY5 (Adenylate cyclase type 5)
T54A (p.Thr54Ala) 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 0.20 / 1. The record also includes population frequency data and structural context.
T54A (p.Thr54Ala) variant details
- p.Thr54Ala
- rs2473329745
- ClinGen CA354358799
- ClinVar RCV002949005
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.14
- MetaLR 0.14
- MetaSVM -0.99
- CADD 15.50
- PolyPhen-2 0.01
- SIFT 0.50
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available