F53C (p.Phe53Cys) variant of RAG1 (P15918)
F53C (p.Phe53Cys) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
F53C (p.Phe53Cys) variant details
- p.Phe53Cys
- ExAC rs759858884
- TOPMed rs759858884
- gnomAD rs759858884
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.12
- MetaLR 0.15
- MetaSVM -0.95
- CADD 6.93
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available