P399S (p.Pro399Ser) variant of PCCB (P05166)
P399S (p.Pro399Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
P399S (p.Pro399Ser) variant details
- p.Pro399Ser
- rs1201850234
- ClinGen CA354648882
- ClinVar RCV002602892
- gnomAD rs1201850234
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)