M53T (p.Met53Thr) variant of REL (Proto-oncogene c-Rel)
M53T (p.Met53Thr) in REL (Proto-oncogene c-Rel) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
M53T (p.Met53Thr) variant details
- p.Met53Thr
- rs1158932766
- gnomAD 2-60894401-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.08
- MetaLR 0.07
- MetaSVM -1.07
- CADD 15.20
- PolyPhen-2 0.17
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available