E261G (p.Glu261Gly) variant of PCCA (P05165)
E261G (p.Glu261Gly) in PCCA (P05165) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
E261G (p.Glu261Gly) variant details
- p.Glu261Gly
- rs1169861687
- ClinGen CA388694346
- ClinVar RCV000538185
- ClinVar RCV003942761
- Likely pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Propionic acidemia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 0.00012)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)