S78P (p.Ser78Pro) variant of UMOD (Uromodulin)
S78P (p.Ser78Pro) 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 0.38 / 1. The record also includes population frequency data and structural context.
S78P (p.Ser78Pro) variant details
- p.Ser78Pro
- rs749912886
- ClinGen CA7939543
- cosmic curated COSV56778
- ClinVar RCV003679898
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- AlphaMissense 0.10
- MetaLR 0.38
- MetaSVM -0.83
- PolyPhen-2 0.00
- SIFT 0.12
- MutPred 0.74
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available