T122A (p.Thr122Ala) variant of REN (Renin)
T122A (p.Thr122Ala) in REN (Renin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of REN-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
T122A (p.Thr122Ala) variant details
- p.Thr122Ala
- ExAC rs778261055
- TOPMed rs778261055
- gnomAD rs778261055
- Uncertain significance
- REN-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.10
- MetaLR 0.07
- MetaSVM -1.08
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.50
- ClinVar: Uncertain significance (REN-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 8.3e-05)
- Structural context available