Y121S (p.Tyr121Ser) variant of PCCA (P05165)
Y121S (p.Tyr121Ser) in PCCA (P05165) 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 0.86 / 1. The record also includes population frequency data and structural context.
Y121S (p.Tyr121Ser) variant details
- p.Tyr121Ser
- Ensembl rs936088423
- Uncertain significance
- Propionic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Propionic acidemia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available