R36G (p.Arg36Gly) variant of AGXT (P21549)
R36G (p.Arg36Gly) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R36G (p.Arg36Gly) variant details
- p.Arg36Gly
- rs180177157
- ClinGen CA351313112
- ClinVar RCV002630271
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.27
- CADD 23.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in HP1)
- UniProt: Likely pathogenic (in HP1)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- AGXT complementation assay *1 B: score 0.044