R30P (p.Arg30Pro) variant of REL (Proto-oncogene c-Rel)
R30P (p.Arg30Pro) in REL (Proto-oncogene c-Rel) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R30P (p.Arg30Pro) variant details
- p.Arg30Pro
- gnomAD 2-60891761-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.64
- MetaLR 0.29
- MetaSVM -0.64
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available