S92I (p.Ser92Ile) variant of AQP4 (Aquaporin-4)
S92I (p.Ser92Ile) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
S92I (p.Ser92Ile) variant details
- p.Ser92Ile
- gnomAD 18-26862354-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.94
- MetaLR 0.94
- MetaSVM 1.10
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available