L21F (p.Leu21Phe) variant of AQP2 (Aquaporin-2)
L21F (p.Leu21Phe) in AQP2 (Aquaporin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
L21F (p.Leu21Phe) variant details
- p.Leu21Phe
- ExAC rs757280714
- TOPMed rs757280714
- gnomAD rs757280714
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.24
- CADD 18.80
- PolyPhen-2 0.19
- SIFT 0.17
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00016)
- Structural context available