D65N (p.Asp65Asn) variant of RAG2 (P55895)
D65N (p.Asp65Asn) in RAG2 (P55895) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D65N (p.Asp65Asn) variant details
- p.Asp65Asn
- TOPMed rs909264507
- gnomAD rs909264507
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.50
- CADD 22.30
- PolyPhen-2 0.11
- SIFT 0.13
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.318