S101L (p.Ser101Leu) variant of UMOD (Uromodulin)
S101L (p.Ser101Leu) 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 0.16 / 1. The record also includes population frequency data and structural context.
S101L (p.Ser101Leu) variant details
- p.Ser101Leu
- gnomAD rs1310015332
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.18
- CADD 11.90
- PolyPhen-2 0.00
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available