D42E (p.Asp42Glu) variant of REL (Proto-oncogene c-Rel)
D42E (p.Asp42Glu) in REL (Proto-oncogene c-Rel) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
D42E (p.Asp42Glu) variant details
- p.Asp42Glu
- rs200357067
- gnomAD 2-60891798-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.10
- MetaLR 0.06
- MetaSVM -1.09
- CADD 9.39
- PolyPhen-2 0.01
- SIFT 0.55
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available