S92C (p.Ser92Cys) variant of AQP4 (Aquaporin-4)
S92C (p.Ser92Cys) 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.
S92C (p.Ser92Cys) variant details
- p.Ser92Cys
- gnomAD 18-26862355-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- REVEL 0.92
- MetaLR 0.89
- MetaSVM 0.94
- CADD 25.90
- PolyPhen-2 0.97
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available