I10T (p.Ile10Thr) variant of REL (Proto-oncogene c-Rel)
I10T (p.Ile10Thr) in REL (Proto-oncogene c-Rel) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
I10T (p.Ile10Thr) variant details
- p.Ile10Thr
- rs367780559
- gnomAD 2-60891701-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.37
- MetaLR 0.24
- MetaSVM -0.58
- CADD 25.10
- PolyPhen-2 0.74
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 8.3e-05)
- Structural context available
- Literature evidence available