R6L (p.Arg6Leu) variant of PCCB (P05166)
R6L (p.Arg6Leu) in PCCB (P05166) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R6L (p.Arg6Leu) variant details
- p.Arg6Leu
- rs767965814
- ClinGen CA354737834
- ClinVar RCV001889069
- ClinVar RCV004041375
- Uncertain significance
- Inborn genetic diseases; Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.36
- ClinVar: Uncertain significance (Inborn genetic diseases; Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- 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)