Y435C (p.Tyr435Cys) variant of PCCB (P05166)
Y435C (p.Tyr435Cys) in PCCB (P05166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Propionic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
Y435C (p.Tyr435Cys) variant details
- p.Tyr435Cys
- rs121964961
- ClinGen CA341178
- ClinVar RCV000012798
- UniProt VAR 023856
- Pathogenic/Likely pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.88
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Propionic acidemia)
- EBI: Pathogenic (in PA-2)
- UniProt: Pathogenic (in PA-2)
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Cited in: Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and… (PMID 12189489)
- Cited in: Propionic Acidemia. (PMID 22593918)