T169M (p.Thr169Met) variant of REN (Renin)
T169M (p.Thr169Met) in REN (Renin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
T169M (p.Thr169Met) variant details
- p.Thr169Met
- cosmic curated COSV10955
- TOPMed rs776576517
- gnomAD rs776576517
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.16
- MetaLR 0.18
- MetaSVM -0.87
- CADD 19.90
- PolyPhen-2 0.49
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available