W6G (p.Trp6Gly) variant of PTPRC (P08575)
W6G (p.Trp6Gly) 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 0.43 / 1. The record also includes population frequency data and structural context.
W6G (p.Trp6Gly) variant details
- p.Trp6Gly
- ExAC rs761069010
- TOPMed rs761069010
- gnomAD rs761069010
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.31
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available