P11A (p.Pro11Ala) variant of AGXT (P21549)
P11A (p.Pro11Ala) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P11A (p.Pro11Ala) variant details
- p.Pro11Ala
- rs375712696
- ClinGen CA2208966
- NCI-TCGA Cosmic COSV1002
- NCI-TCGA Cosmic COSV5675
- Uncertain significance
- Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.49
- ESM-1b 1.00
- AlphaMissense 0.24
- CADD 22.30
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Primary hyperoxaluria, type I)
- EBI: Variant of uncertain significance (in allele minor)
- UniProt: Uncertain significance (in allele minor)
- Most common in the Latino/Admixed American population (allele frequency 0.00031)
- Structural context available
- AGXT complementation assay *1 b: score 0.728
- Cited in: Primary Hyperoxaluria Type 1. (PMID 20301460)
- Cited in: Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment. (PMID 22547750)