I10V (p.Ile10Val) variant of REL (Proto-oncogene c-Rel)
I10V (p.Ile10Val) in REL (Proto-oncogene c-Rel) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
I10V (p.Ile10Val) variant details
- p.Ile10Val
- rs1390363101
- TOPMed rs1390363101
- gnomAD rs1390363101
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.04
- MetaLR 0.04
- MetaSVM -1.01
- CADD 3.25
- PolyPhen-2 0.01
- SIFT 0.88
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available