A45S (p.Ala45Ser) variant of ADCY5 (Adenylate cyclase type 5)
A45S (p.Ala45Ser) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
A45S (p.Ala45Ser) variant details
- p.Ala45Ser
- ExAC rs766890471
- gnomAD rs766890471
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.13
- MetaLR 0.13
- MetaSVM -1.07
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 0.67
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.6e-05)
- Structural context available