K123R (p.Lys123Arg) variant of RELA (Transcription factor p65)
K123R (p.Lys123Arg) 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 0.34 / 1. The record also includes population frequency data.
K123R (p.Lys123Arg) variant details
- p.Lys123Arg
- ExAC rs749535863
- gnomAD rs749535863
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.15
- CADD 23.20
- PolyPhen-2 0.15
- SIFT 0.14
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 7.5e-05)