S30G (p.Ser30Gly) variant of PCCB (P05166)
S30G (p.Ser30Gly) 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 0.27 / 1. The record also includes published literature and structural context.
S30G (p.Ser30Gly) variant details
- p.Ser30Gly
- rs2529731623
- ClinGen CA354737961
- ClinVar RCV003624715
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- ESM-1b 0.00
- AlphaMissense 0.07
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)