I50M (p.Ile50Met) variant of REL (Proto-oncogene c-Rel)
I50M (p.Ile50Met) in REL (Proto-oncogene c-Rel) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
I50M (p.Ile50Met) variant details
- p.Ile50Met
- gnomAD 2-60891822-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.40
- MetaLR 0.35
- MetaSVM -0.35
- CADD 21.70
- PolyPhen-2 0.93
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available