W32* (p.Trp32Ter) variant of NR2E3 (Q9Y5X4)
W32* (p.Trp32Ter) in NR2E3 (Q9Y5X4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
W32* (p.Trp32Ter) variant details
- p.Trp32Ter
- rs2543252248
- ClinVar RCV004574401
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.842
- CADD 37.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available