V7L (p.Val7Leu) variant of PCCB (P05166)
V7L (p.Val7Leu) 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.
V7L (p.Val7Leu) variant details
- p.Val7Leu
- rs1306052988
- ClinGen CA354737837
- ClinVar RCV003066164
- TOPMed rs1306052988
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 8.13
- PolyPhen-2 0.00
- SIFT 0.23
- 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)