I164T (p.Ile164Thr) variant of PCCA (P05165)
I164T (p.Ile164Thr) in PCCA (P05165) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
I164T (p.Ile164Thr) variant details
- p.Ile164Thr
- rs202247815
- ClinGen CA343124
- ClinVar RCV000032111
- UniProt VAR 009090
- Likely pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.54
- CADD 26.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Propionic acidemia)
- EBI: Pathogenic (in PA-1)
- UniProt: Pathogenic (in PA-1)
- Most common in the HGDP:MANDENKA population (allele frequency 0.025)
- Structural context available
- Cited in: Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects. Identification of five novel… (PMID 10101253)
- Cited in: Propionic Acidemia. (PMID 22593918)