H53Q (p.His53Gln) variant of PTPRC (P08575)
H53Q (p.His53Gln) 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 and structural context.
H53Q (p.His53Gln) variant details
- p.His53Gln
- TOPMed rs1666224310
- gnomAD rs1666224310
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.15
- CADD 19.50
- PolyPhen-2 0.25
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available