N23S (p.Asn23Ser) variant of RAG2 (P55895)
N23S (p.Asn23Ser) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Recombinase activating gene 2 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N23S (p.Asn23Ser) variant details
- p.Asn23Ser
- rs751073669
- ClinGen CA5950626
- ClinVar RCV000815023
- ClinVar RCV004765339
- Uncertain significance
- Recombinase activating gene 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.26
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Recombinase activating gene 2 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.9