R230C (p.Arg230Cys) variant of PCCA (P05165)
R230C (p.Arg230Cys) in PCCA (P05165) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R230C (p.Arg230Cys) variant details
- p.Arg230Cys
- rs778530330
- ClinGen CA7033331
- ClinVar RCV000800267
- ClinVar RCV004588263
- Pathogenic/Likely pathogenic
- not provided; Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.87
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Propionic acidemia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)