R512H (p.Arg512His) variant of PCCB (P05166)
R512H (p.Arg512His) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R512H (p.Arg512His) variant details
- p.Arg512His
- rs764697873
- ClinGen CA2632234
- NCI-TCGA Cosmic COSV9929
- ClinVar RCV001053931
- Pathogenic/Likely pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.87
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Propionic acidemia)
- EBI: Pathogenic (in PA-2)
- UniProt: Pathogenic (in PA-2)
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)