L48V (p.Leu48Val) variant of RAG2 (P55895)
L48V (p.Leu48Val) in RAG2 (P55895) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L48V (p.Leu48Val) variant details
- p.Leu48Val
- Ensembl rs767119176
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.17
- CADD 4.61
- PolyPhen-2 0.00
- SIFT 0.87
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.0921