P28L (p.Pro28Leu) variant of PTPRC (P08575)
P28L (p.Pro28Leu) in PTPRC (P08575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
P28L (p.Pro28Leu) variant details
- p.Pro28Leu
- ExAC rs750318458
- TOPMed rs750318458
- gnomAD rs750318458
- Missense
- Variant Prioritization Score for Impact Estimate 0.0417
- REVEL 0.03
- CADD 0.02
- PolyPhen-2 0.01
- SIFT 0.24
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available