P57S (p.Pro57Ser) variant of ADCY5 (Adenylate cyclase type 5)
P57S (p.Pro57Ser) 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 0.21 / 1. The record also includes population frequency data and structural context.
P57S (p.Pro57Ser) variant details
- p.Pro57Ser
- rs1199435756
- ClinGen CA354358777
- ClinVar RCV002015660
- TOPMed rs1199435756
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.14
- MetaLR 0.11
- MetaSVM -1.04
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available