R376H (p.Arg376His) variant of PCCB (P05166)
R376H (p.Arg376His) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R376H (p.Arg376His) variant details
- p.Arg376His
- rs142982097
- ClinGen CA2632025
- cosmic curated COSV52444
- ClinVar RCV000674433
- Conflicting interpretations
- not provided; Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.98
- MetaSVM 1.02
- CADD 31.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Propionic acidemia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)