A22A (p.Ala22Ala) variant of NR2E3 (Q9Y5X4)
A22A (p.Ala22Ala) in NR2E3 (Q9Y5X4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A22A (p.Ala22Ala) variant details
- p.Ala22Ala
- rs1162219397
- gnomAD 15-71810809-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0971
- CADD 2.32
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available