E49K (p.Glu49Lys) variant of RELA (Transcription factor p65)
E49K (p.Glu49Lys) 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 0.58 / 1. The record also includes population frequency data and structural context.
E49K (p.Glu49Lys) variant details
- p.Glu49Lys
- rs969818412
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10042
- gnomAD rs969818412
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.41
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available