S92N (p.Ser92Asn) variant of AQP4 (Aquaporin-4)
S92N (p.Ser92Asn) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
S92N (p.Ser92Asn) variant details
- p.Ser92Asn
- gnomAD 18-26862354-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.82
- MetaLR 0.94
- MetaSVM 1.10
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available