P15S (p.Pro15Ser) variant of AQP4 (Aquaporin-4)
P15S (p.Pro15Ser) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
P15S (p.Pro15Ser) variant details
- p.Pro15Ser
- 1000Genomes rs199674181
- ExAC rs199674181
- TOPMed rs199674181
- gnomAD rs199674181
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.23
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available