T21I (p.Thr21Ile) variant of REN (Renin)
T21I (p.Thr21Ile) 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 0.18 / 1. The record also includes population frequency data and structural context.
T21I (p.Thr21Ile) variant details
- p.Thr21Ile
- TOPMed rs1420333399
- gnomAD rs1420333399
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.07
- MetaLR 0.08
- MetaSVM -1.02
- CADD 11.30
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available