I39T (p.Ile39Thr) variant of PCCB (P05166)
I39T (p.Ile39Thr) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
I39T (p.Ile39Thr) variant details
- p.Ile39Thr
- rs182412270
- ClinGen CA2631575
- ClinVar RCV000313553
- ClinVar RCV005861102
- Uncertain significance
- not provided; Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.43
- MetaLR 0.95
- MetaSVM 1.09
- CADD 28.70
- ClinVar: Uncertain significance (not provided; Propionic acidemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:HAN population (allele frequency 0.015)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)