K51N (p.Lys51Asn) variant of RAG2 (P55895)
K51N (p.Lys51Asn) in RAG2 (P55895) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K51N (p.Lys51Asn) variant details
- p.Lys51Asn
- rs772223078
- NCI-TCGA Cosmic COSV5755
- cosmic curated COSV57556
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.50
- CADD 13.40
- PolyPhen-2 1.00
- SIFT 0.03
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- RAG2 Recombination activating protein 2, PHD domain domainome 1.0: score -0.0676