P6L (p.Pro6Leu) variant of RAG1 (P15918)
P6L (p.Pro6Leu) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Recombinase activating gene 1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
P6L (p.Pro6Leu) variant details
- p.Pro6Leu
- rs1850775921
- ClinGen CA380144964
- ClinVar RCV003019251
- ClinVar RCV004765375
- Uncertain significance
- Recombinase activating gene 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.16
- MetaLR 0.19
- MetaSVM -0.85
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (Recombinase activating gene 1 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available