V55I (p.Val55Ile) variant of RAG2 (P55895)
V55I (p.Val55Ile) in RAG2 (P55895) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V55I (p.Val55Ile) variant details
- p.Val55Ile
- gnomAD rs1194042363
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.19
- CADD 11.70
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.0274