Q134E (p.Gln134Glu) variant of AQP3 (Aquaporin-3)
Q134E (p.Gln134Glu) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
Q134E (p.Gln134Glu) variant details
- p.Gln134Glu
- Ensembl rs2118968338
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- REVEL 0.06
- CADD 0.39
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available