T2S (p.Thr2Ser) variant of PTPRC (P08575)
T2S (p.Thr2Ser) in PTPRC (P08575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
T2S (p.Thr2Ser) variant details
- p.Thr2Ser
- gnomAD 1-198639272-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available