G75V (p.Gly75Val) variant of AQP7 (Aquaporin-7)
G75V (p.Gly75Val) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
G75V (p.Gly75Val) variant details
- p.Gly75Val
- cosmic curated COSV10454
- ESP rs140405277
- ExAC rs140405277
- TOPMed rs140405277
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.52
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00024)
- Structural context available