F4L (p.Phe4Leu) variant of PCCA (P05165)
F4L (p.Phe4Leu) in PCCA (P05165) 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 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
F4L (p.Phe4Leu) variant details
- p.Phe4Leu
- rs759257021
- ClinGen CA388692598
- ClinVar RCV002043692
- ExAC rs759257021
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 5.79
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 3.1e-05)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)