A14A (p.Ala14Ala) variant of NR2E3 (Q9Y5X4)
A14A (p.Ala14Ala) in NR2E3 (Q9Y5X4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A14A (p.Ala14Ala) variant details
- p.Ala14Ala
- gnomAD 15-71810785-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.231
- CADD 11.90
- Population evidence available
- Structural context available
- Literature evidence available