S11A (p.Ser11Ala) variant of NR2E3 (Q9Y5X4)
S11A (p.Ser11Ala) in NR2E3 (Q9Y5X4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
S11A (p.Ser11Ala) variant details
- p.Ser11Ala
- rs2054171751
- ClinGen CA393031462
- ClinVar RCV003842357
- Ensembl rs2054171751
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- CADD 14.10
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available