L48P (p.Leu48Pro) variant of RAG2 (P55895)
L48P (p.Leu48Pro) in RAG2 (P55895) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L48P (p.Leu48Pro) variant details
- p.Leu48Pro
- ExAC rs747263600
- gnomAD rs747263600
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.69
- CADD 23.20
- PolyPhen-2 0.23
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.0921