P10A (p.Pro10Ala) variant of AGXT (P21549)
P10A (p.Pro10Ala) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P10A (p.Pro10Ala) variant details
- p.Pro10Ala
- rs180177191
- ClinGen CA2208964
- ClinVar RCV000425921
- ClinVar RCV001833537
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.43
- ESM-1b 0.97
- AlphaMissense 0.09
- CADD 13.50
- PolyPhen-2 0.28
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- AGXT complementation assay *1 B: score 1.15
- 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)