R230H (p.Arg230His) variant of PCCA (P05165)
R230H (p.Arg230His) in PCCA (P05165) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R230H (p.Arg230His) variant details
- p.Arg230His
- rs747943045
- ClinGen CA7033332
- NCI-TCGA Cosmic COSV6618
- cosmic curated COSV66187
- Likely pathogenic
- not provided; Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.79
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Propionic acidemia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:MANDENKA population (allele frequency 0.025)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)