Y4H (p.Tyr4His) variant of PTPRC (P08575)
Y4H (p.Tyr4His) in PTPRC (P08575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
Y4H (p.Tyr4His) variant details
- p.Tyr4His
- gnomAD 1-198639278-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.15
- CADD 22.90
- PolyPhen-2 0.51
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available