Y42S (p.Tyr42Ser) variant of ADCY5 (Adenylate cyclase type 5)
Y42S (p.Tyr42Ser) in ADCY5 (Adenylate cyclase type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
Y42S (p.Tyr42Ser) variant details
- p.Tyr42Ser
- TOPMed rs1370443253
- gnomAD rs1370443253
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.23
- MetaLR 0.22
- MetaSVM -0.85
- CADD 22.50
- PolyPhen-2 0.03
- SIFT 0.16
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available