P67L (p.Pro67Leu) variant of AQP4 (Aquaporin-4)
P67L (p.Pro67Leu) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
P67L (p.Pro67Leu) variant details
- p.Pro67Leu
- cosmic curated COSV67218
- ExAC rs767503231
- TOPMed rs767503231
- gnomAD rs767503231
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.59
- CADD 23.10
- PolyPhen-2 0.12
- SIFT 0.01
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available