P26R (p.Pro26Arg) variant of ADCY5 (Adenylate cyclase type 5)
P26R (p.Pro26Arg) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P26R (p.Pro26Arg) variant details
- p.Pro26Arg
- ExAC rs752897516
- TOPMed rs752897516
- gnomAD rs752897516
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.21
- MetaLR 0.22
- MetaSVM -1.01
- CADD 18.60
- PolyPhen-2 0.01
- SIFT 0.19
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available