A70S (p.Ala70Ser) variant of UMOD (Uromodulin)
A70S (p.Ala70Ser) in UMOD (Uromodulin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A70S (p.Ala70Ser) variant details
- p.Ala70Ser
- ExAC rs756677160
- TOPMed rs756677160
- gnomAD rs756677160
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.17
- AlphaMissense 0.09
- MetaLR 0.60
- MetaSVM 0.12
- CADD 9.96
- PolyPhen-2 0.98
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available