G20S (p.Gly20Ser) variant of PCCB (P05166)
G20S (p.Gly20Ser) 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
G20S (p.Gly20Ser) variant details
- p.Gly20Ser
- rs777726717
- ClinGen CA2631558
- ClinVar RCV001941436
- ExAC rs777726717
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 7.08
- PolyPhen-2 0.07
- SIFT 0.46
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 7.1e-05)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)