L7P (p.Leu7Pro) variant of AQP3 (Aquaporin-3)
L7P (p.Leu7Pro) in AQP3 (Aquaporin-3) 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 and structural context.
L7P (p.Leu7Pro) variant details
- p.Leu7Pro
- gnomAD rs1180932340
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.51
- CADD 24.00
- PolyPhen-2 0.20
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available