N23D (p.Asn23Asp) variant of RAG2 (P55895)
N23D (p.Asn23Asp) in RAG2 (P55895) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N23D (p.Asn23Asp) variant details
- p.Asn23Asp
- cosmic curated COSV57557
- TOPMed rs1305359808
- gnomAD rs1305359808
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.15
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.9