A19T (p.Ala19Thr) variant of ADCY5 (Adenylate cyclase type 5)
A19T (p.Ala19Thr) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A19T (p.Ala19Thr) variant details
- p.Ala19Thr
- rs550254165
- ClinGen CA2577747
- ClinVar RCV000871723
- ClinVar RCV004540235
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.19
- MetaLR 0.23
- MetaSVM -0.90
- CADD 19.40
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available