R44W (p.Arg44Trp) variant of PCCB (P05166)
R44W (p.Arg44Trp) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R44W (p.Arg44Trp) variant details
- p.Arg44Trp
- rs749210374
- ClinGen CA2631578
- ClinVar RCV002049835
- ExAC rs749210374
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.43
- ESM-1b 1.00
- AlphaMissense 0.15
- CADD 23.60
- PolyPhen-2 0.39
- SIFT 0.01
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Variant of uncertain significance (in PA-2)
- UniProt: Uncertain significance (in PA-2)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)