R30Q (p.Arg30Gln) variant of REL (Proto-oncogene c-Rel)
R30Q (p.Arg30Gln) in REL (Proto-oncogene c-Rel) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R30Q (p.Arg30Gln) variant details
- p.Arg30Gln
- rs1673221568
- gnomAD 2-60891761-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.58
- MetaLR 0.38
- MetaSVM -0.20
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available