S92R (p.Ser92Arg) variant of AQP4 (Aquaporin-4)
S92R (p.Ser92Arg) 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.
S92R (p.Ser92Arg) variant details
- p.Ser92Arg
- TOPMed rs1253372069
- gnomAD rs1253372069
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.73
- CADD 15.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available