K50N (p.Lys50Asn) variant of RAG1 (P15918)
K50N (p.Lys50Asn) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
K50N (p.Lys50Asn) variant details
- p.Lys50Asn
- gnomAD 11-36573454-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0674
- REVEL 0.03
- CADD 7.40
- PolyPhen-2 0.04
- SIFT 0.25
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available