W10S (p.Trp10Ser) variant of AQP4 (Aquaporin-4)
W10S (p.Trp10Ser) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
W10S (p.Trp10Ser) variant details
- p.Trp10Ser
- TOPMed rs1206989233
- gnomAD rs1206989233
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.33
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available