P154S (p.Pro154Ser) variant of PCCB (P05166)
P154S (p.Pro154Ser) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Propionic acidemia; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
P154S (p.Pro154Ser) variant details
- p.Pro154Ser
- rs1468203736
- ClinGen CA354739594
- ClinVar RCV001305446
- ClinVar RCV004036352
- Uncertain significance
- Propionic acidemia; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.92
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Propionic acidemia; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 4e-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)