A17A (p.Ala17Ala) variant of NR2E3 (Q9Y5X4)
A17A (p.Ala17Ala) 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.
A17A (p.Ala17Ala) variant details
- p.Ala17Ala
- rs753463414
- gnomAD 15-71810794-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0935
- CADD 1.82
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available