T68I (p.Thr68Ile) variant of REN (Renin)
T68I (p.Thr68Ile) 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 0.21 / 1. The record also includes population frequency data and structural context.
T68I (p.Thr68Ile) variant details
- p.Thr68Ile
- TOPMed rs920051455
- gnomAD rs920051455
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.10
- MetaLR 0.10
- MetaSVM -1.06
- CADD 14.00
- PolyPhen-2 0.01
- SIFT 0.11
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available