V205D (p.Val205Asp) variant of PCCB (P05166)
V205D (p.Val205Asp) 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 0.87 / 1. The record also includes published literature and structural context.
V205D (p.Val205Asp) variant details
- p.Val205Asp
- rs1303129574
- ClinGen CA354641903
- ClinVar RCV001975047
- UniProt VAR 009082
- Pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- ESM-1b 1.00
- AlphaMissense 0.77
- MetaLR 0.91
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Propionic acidemia)
- EBI: Pathogenic (in PA-2)
- UniProt: Pathogenic (in PA-2)
- Structural context available
- Cited in: Identification of novel mutations in the PCCB gene in European propionic acidemia patients. Mutation in brief no. 253.… (PMID 10447268)
- Cited in: Propionic Acidemia. (PMID 22593918)