N11S (p.Asn11Ser) variant of RAG2 (P55895)
N11S (p.Asn11Ser) in RAG2 (P55895) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N11S (p.Asn11Ser) variant details
- p.Asn11Ser
- ExAC rs780060712
- gnomAD rs780060712
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.19
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.48