L21P (p.Leu21Pro) variant of AQP2 (Aquaporin-2)
L21P (p.Leu21Pro) in AQP2 (Aquaporin-2) is a missense change. Clinical records from ClinVar, EBI, 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 0.70 / 1. The record also includes population frequency data and structural context.
L21P (p.Leu21Pro) variant details
- p.Leu21Pro
- rs1393300849
- ClinGen CA384771580
- ClinVar RCV000722991
- TOPMed rs1393300849
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.76
- CADD 24.40
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available