K40N (p.Lys40Asn) variant of RAG1 (P15918)
K40N (p.Lys40Asn) in RAG1 (P15918) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions and structural context.
K40N (p.Lys40Asn) variant details
- p.Lys40Asn
- ExAC rs779958394
- TOPMed rs779958394
- gnomAD rs779958394
- Likely benign
- Missense
- MetaLR 0.46
- MetaSVM -0.17
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available