S363P (p.Ser363Pro) variant of PCCB (P05166)
S363P (p.Ser363Pro) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of 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.
S363P (p.Ser363Pro) variant details
- p.Ser363Pro
- rs770341883
- ClinGen CA2631997
- ClinVar RCV001208742
- ExAC rs770341883
- Pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.95
- CADD 30.00
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Pathogenic (Propionic acidemia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00018)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)