T235A (p.Thr235Ala) variant of PCCB (P05166)
T235A (p.Thr235Ala) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
T235A (p.Thr235Ala) variant details
- p.Thr235Ala
- rs1021206121
- ClinGen CA83793903
- ClinVar RCV003070416
- ClinVar RCV005692562
- Uncertain significance
- Inborn genetic diseases; Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.70
- MetaLR 0.97
- MetaSVM 1.09
- CADD 26.70
- ClinVar: Uncertain significance (Inborn genetic diseases; Propionic acidemia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)