A60V (p.Ala60Val) variant of ADCY5 (Adenylate cyclase type 5)
A60V (p.Ala60Val) 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 0.31 / 1. The record also includes population frequency data and structural context.
A60V (p.Ala60Val) variant details
- p.Ala60Val
- NCI-TCGA TCGA novel
- TOPMed rs1022376951
- gnomAD rs1022376951
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.14
- MetaLR 0.22
- MetaSVM -0.83
- CADD 17.60
- PolyPhen-2 0.03
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available