R133H (p.Arg133His) variant of RELA (Transcription factor p65)
R133H (p.Arg133His) in RELA (Transcription factor p65) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data.
R133H (p.Arg133His) variant details
- p.Arg133His
- rs750564559
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10042
- ExAC rs750564559
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- REVEL 0.67
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.3e-05)