Y121C (p.Tyr121Cys) variant of PCCA (P05165)
Y121C (p.Tyr121Cys) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
Y121C (p.Tyr121Cys) variant details
- p.Tyr121Cys
- rs936088423
- ClinGen CA255970804
- ClinVar RCV001782572
- Ensembl rs936088423
- Likely pathogenic
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.94
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Propionic acidemia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Propionic Acidemia. (PMID 22593918)