L8R (p.Leu8Arg) variant of NR2E3 (Q9Y5X4)
L8R (p.Leu8Arg) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
L8R (p.Leu8Arg) variant details
- p.Leu8Arg
- gnomAD 15-71810766-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0745
- CADD 2.88
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available