I13T (p.Ile13Thr) variant of REL (Proto-oncogene c-Rel)
I13T (p.Ile13Thr) in REL (Proto-oncogene c-Rel) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
I13T (p.Ile13Thr) variant details
- p.Ile13Thr
- rs1304457448
- gnomAD 2-60891710-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.07
- MetaLR 0.07
- MetaSVM -1.01
- CADD 19.10
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available