S55T (p.Ser55Thr) variant of AQP4 (Aquaporin-4)
S55T (p.Ser55Thr) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
S55T (p.Ser55Thr) variant details
- p.Ser55Thr
- ExAC rs747540951
- gnomAD rs747540951
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.73
- CADD 25.60
- PolyPhen-2 0.81
- SIFT 0.00
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available