K32T (p.Lys32Thr) variant of REN (Renin)
K32T (p.Lys32Thr) 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 of genetic origin; Familial juvenile hype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
K32T (p.Lys32Thr) variant details
- p.Lys32Thr
- rs543353436
- ClinGen CA1345074
- ClinVar RCV002716301
- ClinVar RCV004656971
- Conflicting interpretations
- not provided; Renal tubular dysgenesis of genetic origin; Familial juvenile hype
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.06
- MetaLR 0.08
- MetaSVM -1.06
- CADD 2.33
- PolyPhen-2 0.06
- SIFT 0.30
- ClinVar: Conflicting classifications of pathogenicity (not provided; Renal tubular dysgenesis of genetic origin; Famili)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:HAN population (allele frequency 0.015)
- 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)