E17K (p.Glu17Lys) variant of RAG1 (P15918)
E17K (p.Glu17Lys) in RAG1 (P15918) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
E17K (p.Glu17Lys) variant details
- p.Glu17Lys
- NCI-TCGA Cosmic COSV1002
- TOPMed rs1850776774
- gnomAD rs1850776774
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.40
- MetaLR 0.31
- MetaSVM -0.38
- CADD 24.10
- PolyPhen-2 0.28
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available