L106P (p.Leu106Pro) variant of AQP3 (Aquaporin-3)
L106P (p.Leu106Pro) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
L106P (p.Leu106Pro) variant details
- p.Leu106Pro
- gnomAD rs1447267220
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- REVEL 0.84
- CADD 25.10
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available