T54A (p.Thr54Ala) variant of PTPRC (P08575)
T54A (p.Thr54Ala) in PTPRC (P08575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
T54A (p.Thr54Ala) variant details
- p.Thr54Ala
- ExAC rs775839710
- gnomAD rs775839710
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.08
- CADD 22.90
- PolyPhen-2 0.27
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available