F23L (p.Phe23Leu) variant of AQP2 (Aquaporin-2)
F23L (p.Phe23Leu) in AQP2 (Aquaporin-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
F23L (p.Phe23Leu) variant details
- p.Phe23Leu
- NCI-TCGA Cosmic COSV9955
- gnomAD rs1947323649
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.65
- CADD 27.60
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available