R50K (p.Arg50Lys) variant of RELA (Transcription factor p65)
R50K (p.Arg50Lys) 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 0.33 / 1. The record also includes population frequency data.
R50K (p.Arg50Lys) variant details
- p.Arg50Lys
- gnomAD rs1167688221
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.06
- CADD 18.60
- PolyPhen-2 0.09
- SIFT 0.47
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)