L17M (p.Leu17Met) variant of PCCB (P05166)
L17M (p.Leu17Met) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L17M (p.Leu17Met) variant details
- p.Leu17Met
- rs200185747
- ClinGen CA312824
- cosmic curated COSV52443
- ClinVar RCV000186089
- Conflicting interpretations
- not specified; not provided; Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.59
- ESM-1b 0.56
- AlphaMissense 0.12
- CADD 13.30
- PolyPhen-2 0.17
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Propionic acidemia)
- EBI: Benign (in PA-2)
- UniProt: Benign (in PA-2)
- Most common in the HGDP:BASQUE population (allele frequency 0.023)
- 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)