K298R (p.Lys298Arg) variant of PCCA (P05165)
K298R (p.Lys298Arg) in PCCA (P05165) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of PCCA-related disorder; not provided; Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
K298R (p.Lys298Arg) variant details
- p.Lys298Arg
- rs1444049793
- ClinGen CA388694612
- ClinVar RCV000522063
- ClinVar RCV000664657
- Pathogenic/Likely pathogenic
- PCCA-related disorder; not provided; Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.04
- CADD 31.00
- ClinVar: Pathogenic/Likely pathogenic (PCCA-related disorder; not provided; Propionic acidemia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)