G103D (p.Gly103Asp) variant of UMOD (Uromodulin)
G103D (p.Gly103Asp) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes structural context.
G103D (p.Gly103Asp) variant details
- p.Gly103Asp
- rs1406937918
- ClinGen CA394986655
- ClinVar RCV003699587
- gnomAD rs1406937918
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- AlphaMissense 0.11
- MetaLR 0.36
- MetaSVM -0.57
- PolyPhen-2 0.04
- SIFT 0.05
- MutPred 0.79
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in ADTKD1)
- UniProt: Uncertain significance (in ADTKD1)
- Structural context available