N64S (p.Asn64Ser) variant of RELA (Transcription factor p65)
N64S (p.Asn64Ser) 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 0.23 / 1. The record also includes population frequency data and structural context.
N64S (p.Asn64Ser) variant details
- p.Asn64Ser
- cosmic curated COSV58015
- Ensembl rs1565192440
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.03
- CADD 23.00
- PolyPhen-2 0.04
- SIFT 0.22
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available