E40G (p.Glu40Gly) variant of PCCB (P05166)
E40G (p.Glu40Gly) 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 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
E40G (p.Glu40Gly) variant details
- p.Glu40Gly
- rs755889266
- ClinGen CA2631576
- cosmic curated COSV52444
- ClinVar RCV002585657
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.53
- ESM-1b 1.00
- AlphaMissense 0.12
- CADD 25.30
- PolyPhen-2 0.03
- SIFT 0.01
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)