E168K (p.Glu168Lys) variant of PCCB (P05166)
E168K (p.Glu168Lys) 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; Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
E168K (p.Glu168Lys) variant details
- p.Glu168Lys
- rs121964960
- ClinGen CA341173
- ClinVar RCV000012795
- UniProt VAR 000275
- Pathogenic
- PCCB-related disorder; Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (PCCB-related disorder; Propionic acidemia)
- EBI: Pathogenic (in PA-2)
- UniProt: Pathogenic (in PA-2)
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- 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: identification of twenty-four novel mutations in Europe and North America. (PMID 12559849)