I39V (p.Ile39Val) variant of PCCB (P05166)
I39V (p.Ile39Val) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
I39V (p.Ile39Val) variant details
- p.Ile39Val
- rs1208205672
- ClinGen CA354738019
- ClinVar RCV001362596
- gnomAD rs1208205672
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.54
- ESM-1b 0.16
- AlphaMissense 0.15
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)