T3I (p.Thr3Ile) variant of NR2E3 (Q9Y5X4)
T3I (p.Thr3Ile) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and published literature.
T3I (p.Thr3Ile) variant details
- p.Thr3Ile
- gnomAD 15-71810751-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- CADD 7.49
- PolyPhen-2 0.16
- SIFT 0.08
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Literature evidence available