H44N (p.His44Asn) variant of ADCY5 (Adenylate cyclase type 5)
H44N (p.His44Asn) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
H44N (p.His44Asn) variant details
- p.His44Asn
- rs189868197
- ClinGen CA2577744
- ClinVar RCV003732130
- 1000Genomes rs189868197
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.21
- MetaLR 0.14
- MetaSVM -1.06
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Likely benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available