R376G (p.Arg376Gly) variant of PCCB (P05166)
R376G (p.Arg376Gly) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R376G (p.Arg376Gly) variant details
- p.Arg376Gly
- rs200306164
- ClinGen CA83819671
- ClinVar RCV003848196
- ClinVar RCV005433482
- Conflicting interpretations
- not specified; Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.94
- CADD 27.20
- ClinVar: Conflicting classifications of pathogenicity (not specified; Propionic acidemia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)