D16G (p.Asp16Gly) variant of RAG1 (P15918)
D16G (p.Asp16Gly) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Combined immunodeficiency with skin granulomas; Severe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
D16G (p.Asp16Gly) variant details
- p.Asp16Gly
- rs751834545
- ClinGen CA5949896
- ClinVar RCV001454193
- ClinVar RCV002557546
- Conflicting interpretations
- Inborn genetic diseases; Combined immunodeficiency with skin granulomas; Severe
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.17
- MetaLR 0.25
- MetaSVM -0.52
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.14
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Combined immunodeficiency with skin gra)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- 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)