K28Q (p.Lys28Gln) variant of RELA (Transcription factor p65)
K28Q (p.Lys28Gln) in RELA (Transcription factor p65) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
K28Q (p.Lys28Gln) variant details
- p.Lys28Gln
- ExAC rs753627793
- gnomAD rs753627793
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.20
- CADD 28.20
- PolyPhen-2 0.98
- SIFT 0.03
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available