A18T (p.Ala18Thr) variant of ADCY5 (Adenylate cyclase type 5)
A18T (p.Ala18Thr) in ADCY5 (Adenylate cyclase type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- gnomAD rs1945872536
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.23
- MetaLR 0.21
- MetaSVM -0.65
- CADD 18.40
- PolyPhen-2 0.06
- SIFT 0.03
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available