G11R (p.Gly11Arg) variant of PCCB (P05166)
G11R (p.Gly11Arg) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
G11R (p.Gly11Arg) variant details
- p.Gly11Arg
- rs757860152
- ClinGen CA2631553
- ClinVar RCV001953037
- ExAC rs757860152
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.46
- ESM-1b 0.00
- AlphaMissense 0.25
- CADD 22.40
- PolyPhen-2 0.87
- SIFT 0.07
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)