F10S (p.Phe10Ser) variant of AQP5 (Aquaporin-5)
F10S (p.Phe10Ser) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
F10S (p.Phe10Ser) variant details
- p.Phe10Ser
- gnomAD 12-49962046-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.82
- CADD 24.00
- PolyPhen-2 0.40
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available