G20C (p.Gly20Cys) variant of PCCB (P05166)
G20C (p.Gly20Cys) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G20C (p.Gly20Cys) variant details
- p.Gly20Cys
- rs777726717
- ClinGen CA2631560
- ClinVar RCV002720904
- ExAC rs777726717
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 19.70
- PolyPhen-2 0.79
- SIFT 0.05
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.6e-05)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)