R44G (p.Arg44Gly) variant of PCCB (P05166)
R44G (p.Arg44Gly) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R44G (p.Arg44Gly) variant details
- p.Arg44Gly
- rs749210374
- ClinGen CA354738050
- ClinVar RCV001988492
- ExAC rs749210374
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.35
- ESM-1b 1.00
- AlphaMissense 0.11
- CADD 16.00
- PolyPhen-2 0.01
- SIFT 0.29
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Variant of uncertain significance (in PA-2)
- UniProt: Uncertain significance (in PA-2)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)