L11Q (p.Leu11Gln) variant of PCCA (P05165)
L11Q (p.Leu11Gln) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L11Q (p.Leu11Gln) variant details
- p.Leu11Gln
- rs1462181349
- ClinGen CA388692639
- ClinVar RCV002650797
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.39
- ESM-1b 0.05
- AlphaMissense 0.10
- CADD 23.00
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)