A20A (p.Ala20Ala) variant of NR2E3 (Q9Y5X4)
A20A (p.Ala20Ala) 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.
A20A (p.Ala20Ala) variant details
- p.Ala20Ala
- rs1177404834
- gnomAD 15-71810803-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0852
- CADD 0.79
- Population evidence available
- Structural context available
- Literature evidence available