Q72P (p.Gln72Pro) variant of RAG1 (P15918)
Q72P (p.Gln72Pro) 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 0.28 / 1. The record also includes population frequency data and structural context.
Q72P (p.Gln72Pro) variant details
- p.Gln72Pro
- ExAC rs781240450
- gnomAD rs781240450
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.19
- MetaLR 0.16
- MetaSVM -0.95
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 0.28
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available