F53S (p.Phe53Ser) variant of RAG1 (P15918)
F53S (p.Phe53Ser) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
F53S (p.Phe53Ser) variant details
- p.Phe53Ser
- ExAC rs759858884
- TOPMed rs759858884
- gnomAD rs759858884
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.09
- MetaLR 0.06
- MetaSVM -1.03
- CADD 2.47
- PolyPhen-2 0.00
- SIFT 0.93
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available