P166L (p.Pro166Leu) variant of PCCA (P05165)
P166L (p.Pro166Leu) 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 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
P166L (p.Pro166Leu) variant details
- p.Pro166Leu
- rs2547726580
- ClinGen CA388693312
- ClinVar RCV002835302
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.916
- REVEL 0.99
- ESM-1b 1.00
- AlphaMissense 0.91
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)