R6W (p.Arg6Trp) variant of PCCB (P05166)
R6W (p.Arg6Trp) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R6W (p.Arg6Trp) variant details
- p.Arg6Trp
- rs377681768
- ClinGen CA2631546
- ClinVar RCV001232976
- ESP rs377681768
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.47
- ESM-1b 0.64
- AlphaMissense 0.45
- CADD 23.50
- PolyPhen-2 0.35
- SIFT 0.01
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)