M9T (p.Met9Thr) variant of NR2E3 (Q9Y5X4)
M9T (p.Met9Thr) in NR2E3 (Q9Y5X4) is a missense 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.
M9T (p.Met9Thr) variant details
- p.Met9Thr
- gnomAD 15-71810769-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.087
- CADD 3.12
- PolyPhen-2 0.00
- SIFT 0.50
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available