I505T (p.Ile505Thr) variant of PCCB (P05166)
I505T (p.Ile505Thr) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
I505T (p.Ile505Thr) variant details
- p.Ile505Thr
- rs1353542774
- ClinGen CA354649951
- ClinVar RCV001247013
- ClinVar RCV002568671
- Conflicting interpretations
- Propionic acidemia; Inborn genetic diseases; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.97
- MetaSVM 1.09
- CADD 29.60
- ClinVar: Conflicting classifications of pathogenicity (Propionic acidemia; Inborn genetic diseases; not specified)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- 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)