A7A (p.Ala7Ala) variant of NR2E3 (Q9Y5X4)
A7A (p.Ala7Ala) in NR2E3 (Q9Y5X4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and published literature.
A7A (p.Ala7Ala) variant details
- p.Ala7Ala
- rs1365738203
- gnomAD 15-71810764-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0845
- CADD 0.55
- Most common in the REMAINING population (allele frequency 0.00048)
- Literature evidence available