P15T (p.Pro15Thr) variant of AQP4 (Aquaporin-4)
P15T (p.Pro15Thr) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P15T (p.Pro15Thr) variant details
- p.Pro15Thr
- 1000Genomes rs199674181
- ExAC rs199674181
- TOPMed rs199674181
- gnomAD rs199674181
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.27
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available