I183V (p.Ile183Val) variant of RELA (Transcription factor p65)
I183V (p.Ile183Val) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
I183V (p.Ile183Val) variant details
- p.Ile183Val
- rs1241103660
- ClinGen CA381392690
- ClinVar RCV003031780
- TOPMed rs1241103660
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.33
- CADD 24.30
- PolyPhen-2 0.87
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available