P10L (p.Pro10Leu) variant of PCCA (P05165)
P10L (p.Pro10Leu) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P10L (p.Pro10Leu) variant details
- p.Pro10Leu
- rs1251572354
- ClinGen CA388692634
- ClinVar RCV001997235
- NCI-TCGA TCGA novel
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 13.00
- PolyPhen-2 0.00
- 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 3.7e-06)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)