V50I (p.Val50Ile) variant of RAG2 (P55895)
V50I (p.Val50Ile) in RAG2 (P55895) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V50I (p.Val50Ile) variant details
- p.Val50Ile
- cosmic curated COSV57559
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.19
- CADD 0.27
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.122