E127K (p.Glu127Lys) variant of RELA (Transcription factor p65)
E127K (p.Glu127Lys) in RELA (Transcription factor p65) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data.
E127K (p.Glu127Lys) variant details
- p.Glu127Lys
- rs1172744425
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10042
- NCI-TCGA Cosmic COSV5801
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.16
- CADD 25.90
- PolyPhen-2 0.47
- SIFT 0.69
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)