N40H (p.Asn40His) variant of ADCY5 (Adenylate cyclase type 5)
N40H (p.Asn40His) in ADCY5 (Adenylate cyclase type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
N40H (p.Asn40His) variant details
- p.Asn40His
- TOPMed rs1945870941
- gnomAD rs1945870941
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.29
- MetaLR 0.35
- MetaSVM -0.50
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available