L11F (p.Leu11Phe) variant of RAG1 (P15918)
L11F (p.Leu11Phe) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
L11F (p.Leu11Phe) variant details
- p.Leu11Phe
- Ensembl rs2133292541
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.19
- MetaLR 0.22
- MetaSVM -0.85
- CADD 16.10
- SIFT 0.48
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available