N53H (p.Asn53His) variant of RAG2 (P55895)
N53H (p.Asn53His) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Severe combined immunodeficiency, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N53H (p.Asn53His) variant details
- p.Asn53His
- rs774097244
- ClinGen CA5950614
- ClinVar RCV001240231
- ClinVar RCV001836205
- Uncertain significance
- Inborn genetic diseases; Severe combined immunodeficiency, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.41
- CADD 21.90
- PolyPhen-2 0.91
- SIFT 0.13
- ClinVar: Uncertain significance (Inborn genetic diseases; Severe combined immunodeficiency, autos)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.133
- 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)