P63L (p.Pro63Leu) variant of ADCY5 (Adenylate cyclase type 5)
P63L (p.Pro63Leu) in ADCY5 (Adenylate cyclase type 5) is a missense change. 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.
P63L (p.Pro63Leu) variant details
- p.Pro63Leu
- TOPMed rs1415710264
- gnomAD rs1415710264
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.36
- MetaLR 0.34
- MetaSVM -0.35
- CADD 24.70
- PolyPhen-2 0.98
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available