V8I (p.Val8Ile) variant of RAG2 (P55895)
V8I (p.Val8Ile) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Recombinase activating gene 2 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V8I (p.Val8Ile) variant details
- p.Val8Ile
- rs150762709
- ClinGen CA293055
- cosmic curated COSV57558
- ClinVar RCV000277572
- Likely benign
- Recombinase activating gene 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.17
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.28
- ClinVar: Likely benign (Recombinase activating gene 2 deficiency)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.062)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.541