Y4C (p.Tyr4Cys) variant of PTPRC (P08575)
Y4C (p.Tyr4Cys) in PTPRC (P08575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
Y4C (p.Tyr4Cys) variant details
- p.Tyr4Cys
- ExAC rs773900940
- gnomAD rs773900940
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.19
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available