Q58P (p.Gln58Pro) variant of PCCB (P05166)
Q58P (p.Gln58Pro) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
Q58P (p.Gln58Pro) variant details
- p.Gln58Pro
- rs763949276
- ClinGen CA2631595
- ClinVar RCV003886917
- ExAC rs763949276
- Likely pathogenic
- not provided; Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.94
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Propionic acidemia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.2e-05)
- Structural context available