F5S (p.Phe5Ser) variant of AQP1 (Aquaporin-1)
F5S (p.Phe5Ser) in AQP1 (Aquaporin-1) 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, published literature, and structural context.
F5S (p.Phe5Ser) variant details
- p.Phe5Ser
- rs1791501783
- gnomAD 7-30921621-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0883
- CADD 5.93
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available