A103T (p.Ala103Thr) variant of AQP4 (Aquaporin-4)
A103T (p.Ala103Thr) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
A103T (p.Ala103Thr) variant details
- p.Ala103Thr
- ExAC rs759620679
- TOPMed rs759620679
- gnomAD rs759620679
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.84
- CADD 25.90
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available