L42P (p.Leu42Pro) variant of AQP2 (Aquaporin-2)
L42P (p.Leu42Pro) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
L42P (p.Leu42Pro) variant details
- p.Leu42Pro
- 1000Genomes rs762664471
- ExAC rs762664471
- gnomAD rs762664471
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.77
- CADD 27.00
- PolyPhen-2 0.81
- SIFT 0.01
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available