R149C (p.Arg149Cys) variant of RELA (Transcription factor p65)
R149C (p.Arg149Cys) 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 0.43 / 1. The record also includes population frequency data.
R149C (p.Arg149Cys) variant details
- p.Arg149Cys
- rs1365998197
- ClinGen CA381393178
- ClinVar RCV002006135
- TOPMed rs1365998197
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.14
- CADD 32.00
- PolyPhen-2 0.90
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)