T169A (p.Thr169Ala) variant of REN (Renin)
T169A (p.Thr169Ala) in REN (Renin) is a missense change. Clinical records from ClinVar 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 0.24 / 1. The record also includes population frequency data and structural context.
T169A (p.Thr169Ala) variant details
- p.Thr169Ala
- gnomAD rs1166573542
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.16
- MetaLR 0.10
- MetaSVM -1.03
- CADD 19.60
- SIFT 0.19
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available