K29R (p.Lys29Arg) variant of RAG1 (P15918)
K29R (p.Lys29Arg) 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 0.50 / 1. The record also includes population frequency data and structural context.
K29R (p.Lys29Arg) variant details
- p.Lys29Arg
- rs756679254
- ClinGen CA5949900
- ClinVar RCV002998772
- ClinVar RCV004765373
- Uncertain significance
- Recombinase activating gene 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.37
- MetaLR 0.62
- MetaSVM 0.31
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Recombinase activating gene 1 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available