S26P (p.Ser26Pro) variant of RAG1 (P15918)
S26P (p.Ser26Pro) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Recombinase activating gene 1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S26P (p.Ser26Pro) variant details
- p.Ser26Pro
- rs2494749976
- ClinGen CA380145361
- ClinVar RCV002799264
- ClinVar RCV004765379
- Uncertain significance
- Recombinase activating gene 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.39
- MetaLR 0.35
- MetaSVM -0.51
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (Recombinase activating gene 1 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)