R174H (p.Arg174His) variant of RELA (Transcription factor p65)
R174H (p.Arg174His) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
R174H (p.Arg174His) variant details
- p.Arg174His
- rs1461359004
- ClinGen CA381392838
- ClinVar RCV002601240
- ClinVar RCV004065636
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.03
- CADD 21.50
- PolyPhen-2 0.20
- SIFT 0.16
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available