K8T (p.Lys8Thr) variant of PTPRC (P08575)
K8T (p.Lys8Thr) in PTPRC (P08575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
K8T (p.Lys8Thr) variant details
- p.Lys8Thr
- Ensembl rs1571765578
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.20
- CADD 25.60
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available