S42T (p.Ser42Thr) variant of PTPRC (P08575)
S42T (p.Ser42Thr) in PTPRC (P08575) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
S42T (p.Ser42Thr) variant details
- p.Ser42Thr
- gnomAD rs1159457079
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.10
- AlphaMissense 0.13
- MetaLR 0.01
- MetaSVM -1.00
- CADD 0.78
- PolyPhen-2 0.34
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available