W6R (p.Trp6Arg) variant of PTPRC (P08575)
W6R (p.Trp6Arg) 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 0.42 / 1. The record also includes population frequency data and structural context.
W6R (p.Trp6Arg) variant details
- p.Trp6Arg
- rs761069010
- ClinGen CA1314363
- ClinVar RCV001920629
- ExAC rs761069010
- Uncertain significance
- Immunodeficiency 104
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.31
- CADD 29.20
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Immunodeficiency 104)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available