T52S (p.Thr52Ser) variant of PTPRC (P08575)
T52S (p.Thr52Ser) in PTPRC (P08575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
T52S (p.Thr52Ser) variant details
- p.Thr52Ser
- gnomAD 1-198696765-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.05
- CADD 14.50
- PolyPhen-2 0.27
- SIFT 0.06
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available