L72F (p.Leu72Phe) variant of AQP4 (Aquaporin-4)
L72F (p.Leu72Phe) in AQP4 (Aquaporin-4) 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 0.65 / 1. The record also includes population frequency data and structural context.
L72F (p.Leu72Phe) variant details
- p.Leu72Phe
- TOPMed rs2054967684
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.59
- CADD 23.90
- PolyPhen-2 0.04
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available