A2T (p.Ala2Thr) variant of AQP1 (Aquaporin-1)
A2T (p.Ala2Thr) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- ESP rs144950903
- ExAC rs144950903
- TOPMed rs144950903
- gnomAD rs144950903
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.34
- MetaLR 0.67
- MetaSVM 0.36
- CADD 24.20
- PolyPhen-2 0.95
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available