A12E (p.Ala12Glu) variant of PCCB (P05166)
A12E (p.Ala12Glu) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A12E (p.Ala12Glu) variant details
- p.Ala12Glu
- rs1257439275
- ClinGen CA354737865
- ClinVar RCV001333501
- TOPMed rs1257439275
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.28
- ESM-1b 0.51
- AlphaMissense 0.16
- CADD 17.30
- PolyPhen-2 0.02
- 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 2.7e-06)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)