K50T (p.Lys50Thr) variant of RAG1 (P15918)
K50T (p.Lys50Thr) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
K50T (p.Lys50Thr) variant details
- p.Lys50Thr
- ExAC rs776727182
- gnomAD rs776727182
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.12
- MetaLR 0.19
- MetaSVM -0.85
- CADD 15.60
- PolyPhen-2 0.06
- SIFT 0.43
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available