H129D (p.His129Asp) variant of AQP3 (Aquaporin-3)
H129D (p.His129Asp) 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.
H129D (p.His129Asp) variant details
- p.His129Asp
- TOPMed rs768715017
- gnomAD rs768715017
- Missense
- Variant Prioritization Score for Impact Estimate 0.0858
- REVEL 0.05
- CADD 0.18
- PolyPhen-2 0.00
- SIFT 0.64
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available