E38K (p.Glu38Lys) variant of REL (Proto-oncogene c-Rel)
E38K (p.Glu38Lys) in REL (Proto-oncogene c-Rel) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
E38K (p.Glu38Lys) variant details
- p.Glu38Lys
- rs771878037
- gnomAD 2-60891784-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.45
- MetaLR 0.27
- MetaSVM -0.70
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available