I110T (p.Ile110Thr) variant of RELA (Transcription factor p65)
I110T (p.Ile110Thr) in RELA (Transcription factor p65) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Childhood-onset schizophrenia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data.
I110T (p.Ile110Thr) variant details
- p.Ile110Thr
- rs863223356
- ClinGen CA279852
- ClinVar RCV000202330
- Ensembl rs863223356
- Likely pathogenic
- Childhood-onset schizophrenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.28
- CADD 25.20
- PolyPhen-2 0.76
- SIFT 0.14
- ClinVar: Likely pathogenic (Childhood-onset schizophrenia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available