Y42N (p.Tyr42Asn) variant of ADCY5 (Adenylate cyclase type 5)
Y42N (p.Tyr42Asn) 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.
Y42N (p.Tyr42Asn) variant details
- p.Tyr42Asn
- TOPMed rs1945870813
- gnomAD rs1945870813
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.24
- MetaLR 0.23
- MetaSVM -0.74
- CADD 22.70
- PolyPhen-2 0.09
- SIFT 0.15
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available