L135I (p.Leu135Ile) variant of AQP3 (Aquaporin-3)
L135I (p.Leu135Ile) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
L135I (p.Leu135Ile) variant details
- p.Leu135Ile
- cosmic curated COSV53048
- ExAC rs769161680
- gnomAD rs769161680
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.10
- CADD 22.30
- PolyPhen-2 0.46
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available