P42T (p.Pro42Thr) variant of RAG1 (P15918)
P42T (p.Pro42Thr) in RAG1 (P15918) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
P42T (p.Pro42Thr) variant details
- p.Pro42Thr
- TOPMed rs1338238826
- gnomAD rs1338238826
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.17
- MetaLR 0.32
- MetaSVM -0.70
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available