W103L (p.Trp103Leu) variant of ADCY5 (Adenylate cyclase type 5)
W103L (p.Trp103Leu) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
W103L (p.Trp103Leu) variant details
- p.Trp103Leu
- rs1945865120
- ClinGen CA354358403
- ClinVar RCV003698314
- TOPMed rs1945865120
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.47
- MetaLR 0.41
- MetaSVM -0.16
- CADD 23.20
- PolyPhen-2 0.09
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available