H54H (p.His54His) variant of RAG2 (P55895)
H54H (p.His54His) in RAG2 (P55895) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
H54H (p.His54His) variant details
- p.His54His
- rs2133316015
- gnomAD 11-36594007-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.258
- CADD 3.12
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.183
- Literature evidence available