R44Q (p.Arg44Gln) variant of PCCB (P05166)
R44Q (p.Arg44Gln) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
R44Q (p.Arg44Gln) variant details
- p.Arg44Gln
- rs375014273
- ClinGen CA2631579
- ClinVar RCV001557958
- ClinVar RCV001827469
- Uncertain significance
- not provided; Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 14.50
- PolyPhen-2 0.00
- SIFT 0.55
- ClinVar: Uncertain significance (not provided; 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 4.4e-05)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)