S108A (p.Ser108Ala) variant of REN (Renin)
S108A (p.Ser108Ala) in REN (Renin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Renal tubular dysgenesis of genetic origin; Familial juvenile hyperuricemic neph. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
S108A (p.Ser108Ala) variant details
- p.Ser108Ala
- rs556759055
- ClinGen CA1344979
- ClinVar RCV002974286
- ClinVar RCV005011164
- Conflicting interpretations
- Renal tubular dysgenesis of genetic origin; Familial juvenile hyperuricemic neph
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.13
- MetaLR 0.19
- MetaSVM -0.76
- CADD 11.10
- PolyPhen-2 0.12
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Renal tubular dysgenesis of genetic origin; Familial juvenile hy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – REN. (PMID 21473025)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)