S133L (p.Ser133Leu) variant of REN (Renin)
S133L (p.Ser133Leu) in REN (Renin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Renal tubular dysgenesis; Familial juvenile hyperuricemic nephropa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S133L (p.Ser133Leu) variant details
- p.Ser133Leu
- rs756122840
- ClinGen CA1344947
- NCI-TCGA Cosmic COSV9968
- cosmic curated COSV99689
- Conflicting interpretations
- not provided; Renal tubular dysgenesis; Familial juvenile hyperuricemic nephropa
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.20
- MetaLR 0.20
- MetaSVM -0.82
- CADD 18.30
- PolyPhen-2 0.03
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (not provided; Renal tubular dysgenesis; Familial juvenile hyperu)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – REN. (PMID 21473025)