A22T (p.Ala22Thr) variant of NR2E3 (Q9Y5X4)
A22T (p.Ala22Thr) in NR2E3 (Q9Y5X4) 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 0.46 / 1. The record also includes population frequency data and structural context.
A22T (p.Ala22Thr) variant details
- p.Ala22Thr
- TOPMed rs1426117947
- gnomAD rs1426117947
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- CADD 2.35
- PolyPhen-2 0.00
- SIFT 0.55
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available