G437D (p.Gly437Asp) variant of PCCB (P05166)
G437D (p.Gly437Asp) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G437D (p.Gly437Asp) variant details
- p.Gly437Asp
- rs2529974099
- ClinGen CA354649288
- ClinVar RCV003624330
- ClinVar RCV004801389
- Conflicting interpretations
- not specified; Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Propionic acidemia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)