G188R (p.Gly188Arg) variant of PCCB (P05166)
G188R (p.Gly188Arg) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; 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.
G188R (p.Gly188Arg) variant details
- p.Gly188Arg
- rs746102997
- ClinGen CA2631784
- ClinVar RCV000674578
- ClinVar RCV001268006
- Pathogenic/Likely pathogenic
- not provided; Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Propionic acidemia)
- EBI: Pathogenic (in PA-2)
- UniProt: Pathogenic (in PA-2)
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Cited in: Propionic acidemia: identification of twenty-four novel mutations in Europe and North America. (PMID 12559849)
- Cited in: Propionic Acidemia. (PMID 22593918)