L69P (p.Leu69Pro) variant of RAG2 (P55895)
L69P (p.Leu69Pro) in RAG2 (P55895) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L69P (p.Leu69Pro) variant details
- p.Leu69Pro
- Ensembl rs1590716822
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.95
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.328