V36L (p.Val36Leu) variant of AQP3 (Aquaporin-3)
V36L (p.Val36Leu) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
V36L (p.Val36Leu) variant details
- p.Val36Leu
- gnomAD rs1315402999
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.47
- CADD 23.00
- PolyPhen-2 0.13
- SIFT 0.29
- Most common in the Latino/Admixed American population (allele frequency 2.4e-05)
- Structural context available