L17P (p.Leu17Pro) variant of PTPRC (P08575)
L17P (p.Leu17Pro) in PTPRC (P08575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L17P (p.Leu17Pro) variant details
- p.Leu17Pro
- gnomAD 1-198639318-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.30
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available