I110M (p.Ile110Met) variant of RELA (Transcription factor p65)
I110M (p.Ile110Met) in RELA (Transcription factor p65) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
I110M (p.Ile110Met) variant details
- p.Ile110Met
- rs779601305
- ClinGen CA6106930
- ClinVar RCV002038217
- ClinVar RCV004046190
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.18
- CADD 23.50
- PolyPhen-2 0.91
- SIFT 0.05
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)