R268C (p.Arg268Cys) variant of PCCA (P05165)
R268C (p.Arg268Cys) in PCCA (P05165) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Propionic acidemia; Inborn genetic diseases. 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.
R268C (p.Arg268Cys) variant details
- p.Arg268Cys
- rs774738181
- ClinGen CA7033380
- NCI-TCGA Cosmic COSV6618
- cosmic curated COSV66188
- Conflicting interpretations
- not specified; Propionic acidemia; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.45
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Propionic acidemia; Inborn genetic diseases)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)