H129H (p.His129His) variant of AQP3 (Aquaporin-3)
H129H (p.His129His) in AQP3 (Aquaporin-3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
H129H (p.His129His) variant details
- p.His129His
- gnomAD 9-33442957-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.263
- AlphaMissense 0.09
- MetaLR 0.02
- MetaSVM -0.95
- CADD 4.39
- PolyPhen-2 0.00
- SIFT 0.65
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available