R376L (p.Arg376Leu) variant of PCCB (P05166)
R376L (p.Arg376Leu) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes population frequency data, published literature, and structural context.
R376L (p.Arg376Leu) variant details
- p.Arg376Leu
- rs142982097
- ClinGen CA354648532
- ClinVar RCV000674584
- 1000Genomes rs142982097
- Likely pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.966
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.98
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Propionic acidemia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)