V178I (p.Val178Ile) variant of RELA (Transcription factor p65)
V178I (p.Val178Ile) in RELA (Transcription factor p65) is a missense change. Clinical records from ClinVar 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 0.38 / 1. The record also includes population frequency data and structural context.
V178I (p.Val178Ile) variant details
- p.Val178Ile
- TOPMed rs548164575
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.22
- CADD 18.30
- PolyPhen-2 0.04
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available