G7A (p.Gly7Ala) variant of PCCA (P05165)
G7A (p.Gly7Ala) in PCCA (P05165) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G7A (p.Gly7Ala) variant details
- p.Gly7Ala
- rs1283043748
- ClinGen CA388692616
- ClinVar RCV002806745
- gnomAD rs1283043748
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 17.30
- PolyPhen-2 0.06
- SIFT 0.04
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)