F62L (p.Phe62Leu) variant of RAG2 (P55895)
F62L (p.Phe62Leu) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.82 / 1. The record also includes experimental measurements and structural context.
F62L (p.Phe62Leu) variant details
- p.Phe62Leu
- rs1564997563
- ClinGen CA380144249
- ClinVar RCV002904423
- ClinGen CA380144251
- Uncertain significance
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- AlphaMissense 0.97
- MetaLR 0.86
- MetaSVM 0.84
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.56
- ClinVar: Uncertain significance (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score 0.0669