P42R (p.Pro42Arg) variant of RAG1 (P15918)
P42R (p.Pro42Arg) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
P42R (p.Pro42Arg) variant details
- p.Pro42Arg
- TOPMed rs1449961416
- gnomAD rs1449961416
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.37
- MetaLR 0.55
- MetaSVM -0.05
- CADD 21.10
- PolyPhen-2 0.10
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available