V25I (p.Val25Ile) variant of AQP5 (Aquaporin-5)
V25I (p.Val25Ile) in AQP5 (Aquaporin-5) 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 0.37 / 1. The record also includes population frequency data and structural context.
V25I (p.Val25Ile) variant details
- p.Val25Ile
- rs1947430075
- ClinGen CA384769146
- ClinVar RCV004420047
- TOPMed rs1947430075
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.28
- CADD 20.30
- PolyPhen-2 0.21
- SIFT 0.17
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available