L66S (p.Leu66Ser) variant of AQP4 (Aquaporin-4)
L66S (p.Leu66Ser) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
L66S (p.Leu66Ser) variant details
- p.Leu66Ser
- TOPMed rs1360695259
- gnomAD rs1360695259
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.23
- CADD 14.30
- PolyPhen-2 0.10
- SIFT 0.40
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available