K100E (p.Lys100Glu) variant of ADCY5 (Adenylate cyclase type 5)
K100E (p.Lys100Glu) in ADCY5 (Adenylate cyclase type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
K100E (p.Lys100Glu) variant details
- p.Lys100Glu
- ExAC rs780200428
- TOPMed rs780200428
- gnomAD rs780200428
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.41
- MetaLR 0.29
- MetaSVM -0.42
- CADD 24.60
- PolyPhen-2 0.16
- SIFT 0.00
- Population evidence available
- Structural context available