P10Q (p.Pro10Gln) variant of PCCA (P05165)
P10Q (p.Pro10Gln) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
P10Q (p.Pro10Gln) variant details
- p.Pro10Gln
- rs1251572354
- ClinGen CA388692632
- ClinVar RCV001914686
- gnomAD rs1251572354
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 12.00
- PolyPhen-2 0.02
- SIFT 0.00
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)