S135Y (p.Ser135Tyr) variant of REN (Renin)
S135Y (p.Ser135Tyr) in REN (Renin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Renal tubular dysgenesis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
S135Y (p.Ser135Tyr) variant details
- p.Ser135Tyr
- rs397514691
- ClinGen CA143705
- ClinVar RCV000043473
- Ensembl rs397514691
- Pathogenic
- Renal tubular dysgenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- AlphaMissense 0.95
- MetaLR 0.80
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.75
- ClinVar: Pathogenic (Renal tubular dysgenesis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Inherited renal tubular dysgenesis: the first patients surviving the neonatal period. (PMID 17443344)
- Cited in: Loss-of-function point mutations associated with renal tubular dysgenesis provide insights about renin function and… (PMID 21036942)