P51L (p.Pro51Leu) variant of PTPRC (P08575)
P51L (p.Pro51Leu) in PTPRC (P08575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
P51L (p.Pro51Leu) variant details
- p.Pro51Leu
- TOPMed rs1279852502
- gnomAD rs1279852502
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.16
- CADD 23.40
- PolyPhen-2 0.53
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available