I12V (p.Ile12Val) variant of REL (Proto-oncogene c-Rel)
I12V (p.Ile12Val) in REL (Proto-oncogene c-Rel) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
I12V (p.Ile12Val) variant details
- p.Ile12Val
- rs920348659
- gnomAD 2-60891706-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.42
- MetaLR 0.47
- MetaSVM 0.01
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available