P49S (p.Pro49Ser) variant of PTPRC (P08575)
P49S (p.Pro49Ser) in PTPRC (P08575) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
P49S (p.Pro49Ser) variant details
- p.Pro49Ser
- ExAC rs746480752
- TOPMed rs746480752
- gnomAD rs746480752
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.13
- CADD 23.50
- PolyPhen-2 0.99
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available