G60S (p.Gly60Ser) variant of AQP4 (Aquaporin-4)
G60S (p.Gly60Ser) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
G60S (p.Gly60Ser) variant details
- p.Gly60Ser
- gnomAD 18-26862451-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.31
- MetaLR 0.30
- MetaSVM -0.64
- CADD 19.50
- PolyPhen-2 0.03
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available
- Literature evidence available