V45I (p.Val45Ile) variant of RAG2 (P55895)
V45I (p.Val45Ile) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Combined immunodeficiency with skin granulomas; Severe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V45I (p.Val45Ile) variant details
- p.Val45Ile
- rs770312622
- ClinGen CA5950621
- ClinVar RCV001896453
- ClinVar RCV004041465
- Uncertain significance
- Inborn genetic diseases; Combined immunodeficiency with skin granulomas; Severe
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.21
- CADD 19.20
- PolyPhen-2 0.01
- SIFT 0.14
- ClinVar: Uncertain significance (Inborn genetic diseases; Combined immunodeficiency with skin gra)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.296
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)