S363L (p.Ser363Leu) variant of PCCB (P05166)
S363L (p.Ser363Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
S363L (p.Ser363Leu) variant details
- p.Ser363Leu
- rs2108226720
- ClinGen CA354647440
- cosmic curated COSV52444
- ClinVar RCV002016648
- Conflicting interpretations
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- ESM-1b 1.00
- AlphaMissense 0.58
- MetaLR 0.90
- MetaSVM 1.02
- PolyPhen-2 0.78
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)