E12D (p.Glu12Asp) variant of RELA (Transcription factor p65)
E12D (p.Glu12Asp) in RELA (Transcription factor p65) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data.
E12D (p.Glu12Asp) variant details
- p.Glu12Asp
- gnomAD rs1338619714
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.12
- CADD 21.30
- PolyPhen-2 0.90
- SIFT 0.27
- Most common in the South Asian population (allele frequency 1.2e-05)