L14I (p.Leu14Ile) variant of PCCB (P05166)
L14I (p.Leu14Ile) in PCCB (P05166) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L14I (p.Leu14Ile) variant details
- p.Leu14Ile
- rs1215705998
- ClinGen CA354737873
- ClinVar RCV002627769
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.27
- ESM-1b 0.11
- AlphaMissense 0.08
- CADD 17.40
- PolyPhen-2 0.07
- SIFT 0.02
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)