A444V (p.Ala444Val) variant of RAG1 (P15918)
A444V (p.Ala444Val) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Recombinase activating gene 1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
A444V (p.Ala444Val) variant details
- p.Ala444Val
- rs199474685
- ClinGen CA219800
- NCI-TCGA Cosmic COSV5502
- ClinVar RCV000059562
- Pathogenic
- Recombinase activating gene 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.60
- MetaLR 0.54
- MetaSVM 0.10
- CADD 25.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (Recombinase activating gene 1 deficiency)
- EBI: Pathogenic (in OS)
- UniProt: Pathogenic (in OS)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical… (PMID 11133745)
- Cited in: Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders. (PMID 10606976)