S81I (p.Ser81Ile) variant of UMOD (Uromodulin)
S81I (p.Ser81Ile) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
S81I (p.Ser81Ile) variant details
- p.Ser81Ile
- rs1165900047
- ClinGen CA394987101
- ClinVar RCV002803473
- TOPMed rs1165900047
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.40
- CADD 23.00
- PolyPhen-2 0.90
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)