E193K (p.Glu193Lys) variant of RELA (Transcription factor p65)
E193K (p.Glu193Lys) 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 0.59 / 1. The record also includes population frequency data and structural context.
E193K (p.Glu193Lys) variant details
- p.Glu193Lys
- rs1308599130
- ClinGen CA381391945
- ClinVar RCV001989491
- TOPMed rs1308599130
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.44
- CADD 27.40
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available