R62K (p.Arg62Lys) variant of REL (Proto-oncogene c-Rel)
R62K (p.Arg62Lys) in REL (Proto-oncogene c-Rel) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R62K (p.Arg62Lys) variant details
- p.Arg62Lys
- rs1190862054
- gnomAD 2-60894428-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.36
- MetaLR 0.26
- MetaSVM -0.75
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available