R43C (p.Arg43Cys) variant of PCCB (P05166)
R43C (p.Arg43Cys) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R43C (p.Arg43Cys) variant details
- p.Arg43Cys
- rs1031941989
- ClinGen CA84265579
- ClinVar RCV001924905
- TOPMed rs1031941989
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.28
- CADD 30.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)