C29F (p.Cys29Phe) variant of PCCB (P05166)
C29F (p.Cys29Phe) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
C29F (p.Cys29Phe) variant details
- p.Cys29Phe
- rs765843410
- ClinGen CA2631571
- ClinVar RCV001884686
- ExAC rs765843410
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.46
- ESM-1b 1.00
- AlphaMissense 0.09
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)