P423L (p.Pro423Leu) variant of PCCA (P05165)
P423L (p.Pro423Leu) in PCCA (P05165) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
P423L (p.Pro423Leu) variant details
- p.Pro423Leu
- rs1443858896
- ClinGen CA388695538
- ClinVar RCV000669921
- UniProt VAR 009097
- Pathogenic/Likely pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.91
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Propionic acidemia)
- EBI: Pathogenic (in PA-1)
- UniProt: Pathogenic (in PA-1)
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia. (PMID 15059621)
- Cited in: Propionic Acidemia. (PMID 22593918)