L29P (p.Leu29Pro) variant of AQP7 (Aquaporin-7)
L29P (p.Leu29Pro) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
L29P (p.Leu29Pro) variant details
- p.Leu29Pro
- 1000Genomes rs192851993
- ESP rs192851993
- ExAC rs192851993
- TOPMed rs192851993
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.53
- CADD 22.90
- PolyPhen-2 0.70
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00039)
- Structural context available