A99S (p.Ala99Ser) variant of AQP4 (Aquaporin-4)
A99S (p.Ala99Ser) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
A99S (p.Ala99Ser) variant details
- p.Ala99Ser
- gnomAD 18-26862334-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.83
- MetaLR 0.86
- MetaSVM 0.91
- CADD 25.20
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available