M40L (p.Met40Leu) variant of PTPRC (P08575)
M40L (p.Met40Leu) in PTPRC (P08575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
M40L (p.Met40Leu) variant details
- p.Met40Leu
- gnomAD 1-198696729-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.067
- REVEL 0.05
- CADD 4.97
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available