A23S (p.Ala23Ser) variant of NR2E3 (Q9Y5X4)
A23S (p.Ala23Ser) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A23S (p.Ala23Ser) variant details
- p.Ala23Ser
- gnomAD 15-71810810-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- CADD 12.90
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available