A50T (p.Ala50Thr) variant of ADCY5 (Adenylate cyclase type 5)
A50T (p.Ala50Thr) in ADCY5 (Adenylate cyclase type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A50T (p.Ala50Thr) variant details
- p.Ala50Thr
- ExAC rs775111352
- gnomAD rs775111352
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.19
- MetaLR 0.15
- MetaSVM -0.96
- CADD 7.75
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the Non-Finnish European population (allele frequency 8.7e-06)
- Structural context available