H59Q (p.His59Gln) variant of PCCB (P05166)
H59Q (p.His59Gln) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Propionic acidemia; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
H59Q (p.His59Gln) variant details
- p.His59Gln
- rs757134877
- ClinGen CA2631598
- ClinVar RCV002045334
- ClinVar RCV002657689
- Conflicting interpretations
- Propionic acidemia; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.72
- ESM-1b 1.00
- AlphaMissense 0.77
- CADD 21.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Propionic acidemia; Inborn genetic diseases)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)