P42L (p.Pro42Leu) variant of RAG1 (P15918)
P42L (p.Pro42Leu) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
P42L (p.Pro42Leu) variant details
- p.Pro42Leu
- TOPMed rs1449961416
- gnomAD rs1449961416
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.31
- MetaLR 0.52
- MetaSVM -0.24
- CADD 17.90
- PolyPhen-2 0.03
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available