L22F (p.Leu22Phe) variant of AQP5 (Aquaporin-5)
L22F (p.Leu22Phe) in AQP5 (Aquaporin-5) is a missense change. Clinical records from ClinVar 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 0.40 / 1. The record also includes population frequency data and structural context.
L22F (p.Leu22Phe) variant details
- p.Leu22Phe
- gnomAD rs568521335
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.24
- CADD 11.00
- PolyPhen-2 0.01
- SIFT 0.25
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available