A18V (p.Ala18Val) variant of ADCY5 (Adenylate cyclase type 5)
A18V (p.Ala18Val) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- NCI-TCGA TCGA novel
- gnomAD rs1945872457
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.16
- MetaLR 0.19
- MetaSVM -0.93
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available