P63S (p.Pro63Ser) variant of RAG1 (P15918)
P63S (p.Pro63Ser) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
P63S (p.Pro63Ser) variant details
- p.Pro63Ser
- rs1850780083
- ClinGen CA380145828
- ClinVar RCV001936648
- Ensembl rs1850780083
- Uncertain significance
- Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.07
- AlphaMissense 0.06
- MetaLR 0.20
- MetaSVM -0.62
- CADD 15.00
- PolyPhen-2 0.39
- ClinVar: Uncertain significance (Combined immunodeficiency with skin granulomas; Severe combined)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available