E27G (p.Glu27Gly) variant of RAG1 (P15918)
E27G (p.Glu27Gly) in RAG1 (P15918) 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 and structural context.
E27G (p.Glu27Gly) variant details
- p.Glu27Gly
- Ensembl rs1850777384
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.36
- MetaLR 0.40
- MetaSVM -0.21
- CADD 24.50
- PolyPhen-2 0.17
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available