A79S (p.Ala79Ser) variant of UMOD (Uromodulin)
A79S (p.Ala79Ser) in UMOD (Uromodulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
A79S (p.Ala79Ser) variant details
- p.Ala79Ser
- TOPMed rs965326455
- gnomAD rs965326455
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.18
- CADD 0.56
- PolyPhen-2 0.00
- SIFT 0.35
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available