N536D (p.Asn536Asp) variant of PCCB (P05166)
N536D (p.Asn536Asp) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of PCCB-related disorder; not provided; Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
N536D (p.Asn536Asp) variant details
- p.Asn536Asp
- rs202247823
- ClinGen CA221097
- cosmic curated COSV52449
- ClinVar RCV000032130
- Pathogenic
- PCCB-related disorder; not provided; Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.79
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (PCCB-related disorder; not provided; Propionic acidemia)
- EBI: Pathogenic (in PA-2)
- UniProt: Pathogenic (in PA-2)
- Most common in the Amish population (allele frequency 0.015)
- Structural context available
- Cited in: Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase. (PMID 11749052)
- Cited in: Propionic Acidemia. (PMID 22593918)