N139S (p.Asn139Ser) variant of RELA (Transcription factor p65)
N139S (p.Asn139Ser) 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 0.49 / 1. The record also includes population frequency data.
N139S (p.Asn139Ser) variant details
- p.Asn139Ser
- NCI-TCGA TCGA novel
- ExAC rs751905199
- gnomAD rs751905199
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.38
- CADD 25.80
- PolyPhen-2 0.87
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)