S28F (p.Ser28Phe) variant of NR2E3 (Q9Y5X4)
S28F (p.Ser28Phe) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
S28F (p.Ser28Phe) variant details
- p.Ser28Phe
- TOPMed rs1289412511
- gnomAD rs1289412511
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- CADD 23.20
- PolyPhen-2 0.56
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available