L21P (p.Leu21Pro) variant of AQP3 (Aquaporin-3)
L21P (p.Leu21Pro) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
L21P (p.Leu21Pro) variant details
- p.Leu21Pro
- TOPMed rs1332036044
- gnomAD rs1332036044
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.53
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available