H129Y (p.His129Tyr) variant of AQP3 (Aquaporin-3)
H129Y (p.His129Tyr) in AQP3 (Aquaporin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
H129Y (p.His129Tyr) variant details
- p.His129Tyr
- TOPMed rs768715017
- gnomAD rs768715017
- Missense
- Variant Prioritization Score for Impact Estimate 0.0883
- REVEL 0.06
- CADD 0.37
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available