G60V (p.Gly60Val) variant of AQP4 (Aquaporin-4)
G60V (p.Gly60Val) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
G60V (p.Gly60Val) variant details
- p.Gly60Val
- gnomAD 18-26862450-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.39
- MetaLR 0.45
- MetaSVM -0.29
- CADD 23.00
- PolyPhen-2 0.20
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available