E14D (p.Glu14Asp) variant of REL (Proto-oncogene c-Rel)
E14D (p.Glu14Asp) in REL (Proto-oncogene c-Rel) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
E14D (p.Glu14Asp) variant details
- p.Glu14Asp
- rs1359804880
- gnomAD 2-60891714-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.62
- MetaLR 0.39
- MetaSVM -0.27
- CADD 23.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available