M443T (p.Met443Thr) variant of RAG2 (P55895)
M443T (p.Met443Thr) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
M443T (p.Met443Thr) variant details
- p.Met443Thr
- rs1406618487
- ClinGen CA380140611
- ClinVar RCV001379226
- gnomAD rs1406618487
- Likely pathogenic
- Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.92
- CADD 25.50
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Likely pathogenic (Combined immunodeficiency with skin granulomas; Severe combined)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available