S11S (p.Ser11Ser) variant of NR2E3 (Q9Y5X4)
S11S (p.Ser11Ser) in NR2E3 (Q9Y5X4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S11S (p.Ser11Ser) variant details
- p.Ser11Ser
- rs764469729
- gnomAD 15-71810776-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.353
- CADD 7.80
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available