R149H (p.Arg149His) variant of RELA (Transcription factor p65)
R149H (p.Arg149His) 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 0.37 / 1. The record also includes population frequency data.
R149H (p.Arg149His) variant details
- p.Arg149His
- rs761250712
- ClinGen CA6106876
- NCI-TCGA Cosmic COSV5801
- cosmic curated COSV58015
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.08
- CADD 24.20
- PolyPhen-2 0.76
- SIFT 0.24
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00018)