Y42C (p.Tyr42Cys) variant of ADCY5 (Adenylate cyclase type 5)
Y42C (p.Tyr42Cys) in ADCY5 (Adenylate cyclase type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
Y42C (p.Tyr42Cys) variant details
- p.Tyr42Cys
- TOPMed rs1370443253
- gnomAD rs1370443253
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.18
- MetaLR 0.16
- MetaSVM -0.92
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.77
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available