K56E (p.Lys56Glu) variant of RAG1 (P15918)
K56E (p.Lys56Glu) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
K56E (p.Lys56Glu) variant details
- p.Lys56Glu
- gnomAD rs1409296761
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.06
- MetaLR 0.21
- MetaSVM -0.86
- CADD 14.20
- SIFT 0.81
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available