F30L (p.Phe30Leu) variant of RAG2 (P55895)
F30L (p.Phe30Leu) in RAG2 (P55895) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, and structural context.
F30L (p.Phe30Leu) variant details
- p.Phe30Leu
- TOPMed rs1851105577
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.27
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.381