K47T (p.Lys47Thr) variant of RAG1 (P15918)
K47T (p.Lys47Thr) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
K47T (p.Lys47Thr) variant details
- p.Lys47Thr
- gnomAD 11-36573444-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.22
- CADD 0.08
- PolyPhen-2 0.00
- SIFT 0.63
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available