K64E (p.Lys64Glu) variant of RAG2 (P55895)
K64E (p.Lys64Glu) in RAG2 (P55895) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K64E (p.Lys64Glu) variant details
- p.Lys64Glu
- 1000Genomes rs535374501
- ExAC rs535374501
- gnomAD rs535374501
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.52
- CADD 23.70
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.712