S37T (p.Ser37Thr) variant of RAG1 (P15918)
S37T (p.Ser37Thr) in RAG1 (P15918) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S37T (p.Ser37Thr) variant details
- p.Ser37Thr
- TOPMed rs1162129015
- gnomAD rs1162129015
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.37
- MetaLR 0.35
- MetaSVM -0.36
- CADD 23.00
- PolyPhen-2 0.34
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available