S28S (p.Ser28Ser) variant of NR2E3 (Q9Y5X4)
S28S (p.Ser28Ser) in NR2E3 (Q9Y5X4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S28S (p.Ser28Ser) variant details
- p.Ser28Ser
- rs1320961762
- gnomAD 15-71810827-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.219
- CADD 8.74
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available