L21V (p.Leu21Val) variant of AQP3 (Aquaporin-3)
L21V (p.Leu21Val) in AQP3 (Aquaporin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
L21V (p.Leu21Val) variant details
- p.Leu21Val
- rs1826932060
- ClinGen CA373200210
- ClinVar RCV004164680
- Ensembl rs1826932060
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.25
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available