K100Q (p.Lys100Gln) variant of ADCY5 (Adenylate cyclase type 5)
K100Q (p.Lys100Gln) in ADCY5 (Adenylate cyclase type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
K100Q (p.Lys100Gln) variant details
- p.Lys100Gln
- ExAC rs780200428
- TOPMed rs780200428
- gnomAD rs780200428
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.39
- MetaLR 0.30
- MetaSVM -0.40
- CADD 24.30
- PolyPhen-2 0.20
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available