H20Q (p.His20Gln) variant of RAG1 (P15918)
H20Q (p.His20Gln) in RAG1 (P15918) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
H20Q (p.His20Gln) variant details
- p.His20Gln
- 1000Genomes rs138801620
- ESP rs138801620
- ExAC rs138801620
- TOPMed rs138801620
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.24
- MetaLR 0.21
- MetaSVM -0.82
- CADD 12.00
- PolyPhen-2 0.17
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available