A18E (p.Ala18Glu) variant of ADCY5 (Adenylate cyclase type 5)
A18E (p.Ala18Glu) in ADCY5 (Adenylate cyclase type 5) is a missense change. 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.
A18E (p.Ala18Glu) variant details
- p.Ala18Glu
- gnomAD rs1945872457
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.21
- MetaLR 0.19
- MetaSVM -0.78
- CADD 19.50
- PolyPhen-2 0.30
- SIFT 0.01
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available