D78N (p.Asp78Asn) variant of ADCY5 (Adenylate cyclase type 5)
D78N (p.Asp78Asn) 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.
D78N (p.Asp78Asn) variant details
- p.Asp78Asn
- ExAC rs756652189
- gnomAD rs756652189
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.20
- MetaLR 0.32
- MetaSVM -0.63
- CADD 21.80
- PolyPhen-2 0.04
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 4.6e-06)
- Structural context available