P305L (p.Pro305Leu) variant of RAG2 (P55895)
P305L (p.Pro305Leu) 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 0.86 / 1. The record also includes population frequency data and structural context.
P305L (p.Pro305Leu) variant details
- p.Pro305Leu
- rs756192655
- ClinGen CA5950502
- ClinVar RCV003061066
- ExAC rs756192655
- Likely pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.94
- CADD 24.90
- PolyPhen-2 0.46
- SIFT 0.01
- ClinVar: Likely pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available