A14T (p.Ala14Thr) variant of ADCY5 (Adenylate cyclase type 5)
A14T (p.Ala14Thr) in ADCY5 (Adenylate cyclase type 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- Ensembl rs1945872873
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.20
- MetaLR 0.29
- MetaSVM -0.67
- CADD 22.80
- PolyPhen-2 0.05
- SIFT 0.02
- Population evidence available
- Structural context available