R6G (p.Arg6Gly) variant of PCCB (P05166)
R6G (p.Arg6Gly) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R6G (p.Arg6Gly) variant details
- p.Arg6Gly
- rs377681768
- ClinGen CA354737832
- ClinVar RCV002730222
- ESP rs377681768
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.51
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 21.00
- PolyPhen-2 0.12
- SIFT 0.03
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)