R288K (p.Arg288Lys) variant of PCCA (P05165)
R288K (p.Arg288Lys) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R288K (p.Arg288Lys) variant details
- p.Arg288Lys
- rs879253810
- ClinGen CA10575827
- ClinVar RCV000236908
- TOPMed rs879253810
- Pathogenic/Likely pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.93
- CADD 27.60
- ClinVar: Pathogenic/Likely pathogenic (Propionic acidemia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)