F18S (p.Phe18Ser) variant of UMOD (Uromodulin)
F18S (p.Phe18Ser) in UMOD (Uromodulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
F18S (p.Phe18Ser) variant details
- p.Phe18Ser
- ExAC rs765894486
- gnomAD rs765894486
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.31
- CADD 9.52
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available