A74S (p.Ala74Ser) variant of UMOD (Uromodulin)
A74S (p.Ala74Ser) 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 0.43 / 1. The record also includes structural context.
A74S (p.Ala74Ser) variant details
- p.Ala74Ser
- rs1965760008
- ClinGen CA394987296
- ClinVar RCV001326280
- Ensembl rs1965760008
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- AlphaMissense 0.08
- MetaLR 0.41
- MetaSVM -0.48
- PolyPhen-2 0.64
- SIFT 0.26
- MutPred 0.52
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available