I27L (p.Ile27Leu) variant of AQP1 (Aquaporin-1)
I27L (p.Ile27Leu) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
I27L (p.Ile27Leu) variant details
- p.Ile27Leu
- gnomAD 7-30911988-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.28
- MetaLR 0.39
- MetaSVM -0.55
- CADD 22.70
- PolyPhen-2 0.21
- SIFT 0.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available