L4V (p.Leu4Val) variant of AQP2 (Aquaporin-2)
L4V (p.Leu4Val) 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 0.37 / 1. The record also includes population frequency data and structural context.
L4V (p.Leu4Val) variant details
- p.Leu4Val
- TOPMed rs1365398150
- gnomAD rs1365398150
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.20
- CADD 18.40
- PolyPhen-2 0.01
- SIFT 0.42
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available