R268H (p.Arg268His) variant of PCCA (P05165)
R268H (p.Arg268His) in PCCA (P05165) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; 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.
R268H (p.Arg268His) variant details
- p.Arg268His
- rs368047060
- ClinGen CA7033381
- cosmic curated COSV66191
- ClinVar RCV000791805
- Uncertain significance
- Inborn genetic diseases; Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.25
- CADD 31.00
- PolyPhen-2 0.94
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; Propionic acidemia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 0.0002)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)