T60A (p.Thr60Ala) variant of RAG2 (P55895)
T60A (p.Thr60Ala) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T60A (p.Thr60Ala) variant details
- p.Thr60Ala
- ExAC rs752522715
- TOPMed rs752522715
- gnomAD rs752522715
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.27
- CADD 3.32
- PolyPhen-2 0.00
- SIFT 0.83
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.0908