F5L (p.Phe5Leu) variant of RAG1 (P15918)
F5L (p.Phe5Leu) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Recombinase activating gene 1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
F5L (p.Phe5Leu) variant details
- p.Phe5Leu
- rs745600099
- ClinGen CA5949888
- ClinVar RCV001246920
- ClinVar RCV004765350
- Uncertain significance
- Recombinase activating gene 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.10
- MetaLR 0.08
- MetaSVM -1.01
- CADD 11.60
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Recombinase activating gene 1 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available