L4P (p.Leu4Pro) variant of AQP2 (Aquaporin-2)
L4P (p.Leu4Pro) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
L4P (p.Leu4Pro) variant details
- p.Leu4Pro
- ESP rs372883230
- TOPMed rs372883230
- gnomAD rs372883230
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.84
- CADD 28.20
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available