Q104L (p.Gln104Leu) variant of ADCY5 (Adenylate cyclase type 5)
Q104L (p.Gln104Leu) in ADCY5 (Adenylate cyclase type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
Q104L (p.Gln104Leu) variant details
- p.Gln104Leu
- ExAC rs781642194
- TOPMed rs781642194
- gnomAD rs781642194
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.23
- MetaLR 0.30
- MetaSVM -0.71
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available