P26L (p.Pro26Leu) variant of ADCY5 (Adenylate cyclase type 5)
P26L (p.Pro26Leu) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. 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.
P26L (p.Pro26Leu) variant details
- p.Pro26Leu
- rs752897516
- ClinGen CA2577746
- ClinVar RCV001879559
- ExAC rs752897516
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.21
- MetaLR 0.22
- MetaSVM -1.00
- CADD 19.30
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0032)
- Structural context available