I61T (p.Ile61Thr) variant of RAG2 (P55895)
I61T (p.Ile61Thr) in RAG2 (P55895) is a missense change. 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.
I61T (p.Ile61Thr) variant details
- p.Ile61Thr
- gnomAD 11-36593987-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.30
- CADD 12.50
- PolyPhen-2 0.00
- SIFT 0.61
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.159
- Literature evidence available