S30F (p.Ser30Phe) variant of ADCY5 (Adenylate cyclase type 5)
S30F (p.Ser30Phe) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S30F (p.Ser30Phe) variant details
- p.Ser30Phe
- rs1455983225
- ClinGen CA354358940
- ClinVar RCV003156649
- TOPMed rs1455983225
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.34
- MetaLR 0.34
- MetaSVM -0.24
- CADD 23.50
- PolyPhen-2 0.29
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available