K47N (p.Lys47Asn) variant of RAG1 (P15918)
K47N (p.Lys47Asn) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
K47N (p.Lys47Asn) variant details
- p.Lys47Asn
- gnomAD 11-36573445-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0832
- REVEL 0.07
- CADD 4.51
- PolyPhen-2 0.01
- SIFT 0.50
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available