S12N (p.Ser12Asn) variant of RAG1 (P15918)
S12N (p.Ser12Asn) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
S12N (p.Ser12Asn) variant details
- p.Ser12Asn
- TOPMed rs1463769346
- gnomAD rs1463769346
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.12
- MetaLR 0.17
- MetaSVM -0.86
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available