P22L (p.Pro22Leu) variant of PCCA (P05165)
P22L (p.Pro22Leu) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P22L (p.Pro22Leu) variant details
- p.Pro22Leu
- rs773397570
- ClinGen CA7033072
- ClinVar RCV001912875
- ExAC rs773397570
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5.9e-05)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)