A14S (p.Ala14Ser) variant of NR2E3 (Q9Y5X4)
A14S (p.Ala14Ser) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A14S (p.Ala14Ser) variant details
- p.Ala14Ser
- gnomAD 15-71810783-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- CADD 15.10
- PolyPhen-2 0.01
- SIFT 0.26
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available