P21L (p.Pro21Leu) variant of PCCA (P05165)
P21L (p.Pro21Leu) 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 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
P21L (p.Pro21Leu) variant details
- p.Pro21Leu
- rs1367928921
- ClinGen CA388692694
- ClinVar RCV001909646
- TOPMed rs1367928921
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 8.54
- PolyPhen-2 0.03
- SIFT 0.10
- 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)