L8M (p.Leu8Met) variant of NR2E3 (Q9Y5X4)
L8M (p.Leu8Met) 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, published literature, and structural context.
L8M (p.Leu8Met) variant details
- p.Leu8Met
- gnomAD 15-71810765-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- CADD 6.91
- PolyPhen-2 0.04
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available