S205P (p.Ser205Pro) variant of AGXT (P21549)
S205P (p.Ser205Pro) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Primary hyperoxaluria, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S205P (p.Ser205Pro) variant details
- p.Ser205Pro
- rs121908520
- ClinGen CA340441
- ClinVar RCV000005994
- ClinVar RCV000420710
- Pathogenic/Likely pathogenic
- not provided; Primary hyperoxaluria, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.64
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Primary hyperoxaluria, type I)
- EBI: Pathogenic (in HP1)
- UniProt: Pathogenic (in HP1)
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- AGXT complementation assay *1 B: score 0.853
- Cited in: Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: study of a… (PMID 16971151)
- Cited in: Primary hyperoxaluria type I due to a point mutation of T to C in the coding region of the serine:pyruvate… (PMID 2039493)