L43P (p.Leu43Pro) variant of AQP4 (Aquaporin-4)
L43P (p.Leu43Pro) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
L43P (p.Leu43Pro) variant details
- p.Leu43Pro
- gnomAD 18-26862501-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.96
- MetaLR 0.87
- MetaSVM 0.98
- CADD 27.70
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available