D18H (p.Asp18His) variant of PTPRC (P08575)
D18H (p.Asp18His) in PTPRC (P08575) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
D18H (p.Asp18His) variant details
- p.Asp18His
- cosmic curated COSV10072
- ExAC rs781080051
- TOPMed rs781080051
- gnomAD rs781080051
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.16
- CADD 26.10
- PolyPhen-2 0.98
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available