N101K (p.Asn101Lys) variant of RAG2 (P55895)
N101K (p.Asn101Lys) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
N101K (p.Asn101Lys) variant details
- p.Asn101Lys
- rs2133315445
- Ensembl rs2133315445
- ClinGen CA380143718
- ClinVar RCV003017779
- Likely pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.85
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available