T107A (p.Thr107Ala) variant of UMOD (Uromodulin)
T107A (p.Thr107Ala) in UMOD (Uromodulin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
T107A (p.Thr107Ala) variant details
- p.Thr107Ala
- rs1262195867
- ClinGen CA394987752
- cosmic curated COSV10020
- ClinVar RCV002781649
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- AlphaMissense 0.10
- MetaLR 0.49
- MetaSVM -0.58
- PolyPhen-2 0.00
- SIFT 0.13
- MutPred 0.37
- EBI: Likely benign
- UniProt: Likely benign
- 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)