H75P (p.His75Pro) variant of REL (Proto-oncogene c-Rel)
H75P (p.His75Pro) in REL (Proto-oncogene c-Rel) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
H75P (p.His75Pro) variant details
- p.His75Pro
- gnomAD 2-60894467-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.88
- MetaLR 0.64
- MetaSVM 0.53
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available