T33S (p.Thr33Ser) variant of PCCA (P05165)
T33S (p.Thr33Ser) in PCCA (P05165) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of See cases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
T33S (p.Thr33Ser) variant details
- p.Thr33Ser
- rs1266738147
- ClinGen CA388692767
- ClinVar RCV002252903
- gnomAD rs1266738147
- Uncertain significance
- See cases
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.73
- MetaSVM -0.03
- PolyPhen-2 0.25
- SIFT 0.68
- ClinVar: Uncertain significance (See cases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available