G216S (p.Gly216Ser) variant of NR2E3 (Q9Y5X4)
G216S (p.Gly216Ser) in NR2E3 (Q9Y5X4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of ENHANCED S-CONE SYNDROME 1; Retinitis pigmentosa 37; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and published literature.
G216S (p.Gly216Ser) variant details
- p.Gly216Ser
- rs368098126
- ClinGen CA235935
- ClinVar RCV000171238
- ClinVar RCV000787632
- Likely pathogenic
- ENHANCED S-CONE SYNDROME 1; Retinitis pigmentosa 37; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- MetaLR 0.06
- MetaSVM -0.96
- CADD 7.94
- PolyPhen-2 0.00
- SIFT 0.69
- ClinVar: Likely pathogenic (ENHANCED S-CONE SYNDROME 1; Retinitis pigmentosa 37; not provide)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)