A15A (p.Ala15Ala) variant of NR2E3 (Q9Y5X4)
A15A (p.Ala15Ala) in NR2E3 (Q9Y5X4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A15A (p.Ala15Ala) variant details
- p.Ala15Ala
- rs752130237
- gnomAD 15-71810788-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.128
- CADD 6.68
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available