T12T (p.Thr12Thr) variant of NR2E3 (Q9Y5X4)
T12T (p.Thr12Thr) in NR2E3 (Q9Y5X4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
T12T (p.Thr12Thr) variant details
- p.Thr12Thr
- rs1245543498
- gnomAD 15-71810779-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0865
- CADD 0.82
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available