A5T (p.Ala5Thr) variant of REL (Proto-oncogene c-Rel)
A5T (p.Ala5Thr) in REL (Proto-oncogene c-Rel) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A5T (p.Ala5Thr) variant details
- p.Ala5Thr
- rs1262001260
- gnomAD 2-60891685-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.08
- MetaLR 0.09
- MetaSVM -1.05
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available