Q104K (p.Gln104Lys) variant of ADCY5 (Adenylate cyclase type 5)
Q104K (p.Gln104Lys) in ADCY5 (Adenylate cyclase type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
Q104K (p.Gln104Lys) variant details
- p.Gln104Lys
- gnomAD rs1284940679
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.19
- MetaLR 0.31
- MetaSVM -0.68
- CADD 20.70
- PolyPhen-2 0.02
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.7e-07)
- Structural context available