Q23P (p.Gln23Pro) variant of PCCA (P05165)
Q23P (p.Gln23Pro) in PCCA (P05165) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PCCA-related disorder; Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
Q23P (p.Gln23Pro) variant details
- p.Gln23Pro
- rs1566436392
- ClinGen CA388692704
- ClinVar RCV001929970
- TOPMed rs1566436392
- Uncertain significance
- PCCA-related disorder; Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 15.20
- PolyPhen-2 0.03
- SIFT 0.06
- ClinVar: Uncertain significance (PCCA-related disorder; Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6.8e-05)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)