L28F (p.Leu28Phe) variant of PCCB (P05166)
L28F (p.Leu28Phe) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L28F (p.Leu28Phe) variant details
- p.Leu28Phe
- rs141137691
- ClinGen CA2631570
- ClinVar RCV002646474
- 1000Genomes rs141137691
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 10.30
- PolyPhen-2 0.00
- SIFT 0.28
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)