R36P (p.Arg36Pro) variant of AGXT (P21549)
R36P (p.Arg36Pro) 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 0.72 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R36P (p.Arg36Pro) variant details
- p.Arg36Pro
- rs180177162
- ClinGen CA351313118
- ClinVar RCV003011885
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.72
- ESM-1b 1.00
- AlphaMissense 0.53
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in HP1)
- UniProt: Likely pathogenic (in HP1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- AGXT complementation assay *1 B: score 0.044