I39S (p.Ile39Ser) variant of PCCB (P05166)
I39S (p.Ile39Ser) 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 0.83 / 1. The record also includes published literature and structural context.
I39S (p.Ile39Ser) variant details
- p.Ile39Ser
- rs182412270
- ClinGen CA354738021
- ClinVar RCV002820172
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- ESM-1b 1.00
- AlphaMissense 0.43
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)