L72W (p.Leu72Trp) variant of AQP7 (Aquaporin-7)
L72W (p.Leu72Trp) in AQP7 (Aquaporin-7) 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.
L72W (p.Leu72Trp) variant details
- p.Leu72Trp
- ExAC rs757776208
- TOPMed rs757776208
- gnomAD rs757776208
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.58
- CADD 23.80
- PolyPhen-2 0.40
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available