V8L (p.Val8Leu) variant of AQP3 (Aquaporin-3)
V8L (p.Val8Leu) in AQP3 (Aquaporin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
V8L (p.Val8Leu) variant details
- p.Val8Leu
- rs759820093
- ClinGen CA5026539
- ClinVar RCV004363470
- ExAC rs759820093
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.14
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5.1e-05)
- Structural context available