Q58R (p.Gln58Arg) variant of PCCB (P05166)
Q58R (p.Gln58Arg) in PCCB (P05166) is a missense change. Clinical records from ClinVar 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 0.90 / 1. The record also includes structural context.
Q58R (p.Gln58Arg) variant details
- p.Gln58Arg
- cosmic curated COSV52445
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.85
- ClinVar: Uncertain significance (Propionic acidemia)
- UniProt: Uncertain significance
- Structural context available