P63A (p.Pro63Ala) variant of RAG1 (P15918)
P63A (p.Pro63Ala) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Histiocytic medullary reticulosis; Severe combined immunodeficiency, autosomal r. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes structural context.
P63A (p.Pro63Ala) variant details
- p.Pro63Ala
- rs1850780083
- ClinGen CA380145827
- ClinVar RCV001103309
- ClinVar RCV001103310
- Uncertain significance
- Histiocytic medullary reticulosis; Severe combined immunodeficiency, autosomal r
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- AlphaMissense 0.06
- MetaLR 0.20
- MetaSVM -0.62
- PolyPhen-2 0.39
- SIFT 0.09
- EVE 0.11
- ClinVar: Uncertain significance (Histiocytic medullary reticulosis; Severe combined immunodeficie)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available