L69V (p.Leu69Val) variant of RAG2 (P55895)
L69V (p.Leu69Val) 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.
L69V (p.Leu69Val) variant details
- p.Leu69Val
- TOPMed rs1390218087
- gnomAD rs1390218087
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.88
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.328