P49T (p.Pro49Thr) variant of PTPRC (P08575)
P49T (p.Pro49Thr) in PTPRC (P08575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 104. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
P49T (p.Pro49Thr) variant details
- p.Pro49Thr
- rs746480752
- ClinGen CA1314417
- ClinVar RCV002049517
- ExAC rs746480752
- Uncertain significance
- Immunodeficiency 104
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.16
- CADD 23.30
- PolyPhen-2 0.99
- SIFT 0.05
- ClinVar: Uncertain significance (Immunodeficiency 104)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available