F33L (p.Phe33Leu) variant of RAG1 (P15918)
F33L (p.Phe33Leu) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
F33L (p.Phe33Leu) variant details
- p.Phe33Leu
- ESP rs370678903
- ExAC rs370678903
- TOPMed rs370678903
- gnomAD rs370678903
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.48
- MetaLR 0.53
- MetaSVM 0.08
- CADD 23.70
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available