F130F (p.Phe130Phe) variant of AQP3 (Aquaporin-3)
F130F (p.Phe130Phe) in AQP3 (Aquaporin-3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
F130F (p.Phe130Phe) variant details
- p.Phe130Phe
- rs2228332
- gnomAD 9-33442954-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0878
- CADD 1.01
- Most common in the HGDP:PIMA population (allele frequency 1)
- Structural context available
- Literature evidence available