D18N (p.Asp18Asn) variant of PTPRC (P08575)
D18N (p.Asp18Asn) in PTPRC (P08575) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 104. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
D18N (p.Asp18Asn) variant details
- p.Asp18Asn
- rs781080051
- ClinGen CA344098056
- ClinVar RCV001046302
- ExAC rs781080051
- Uncertain significance
- Immunodeficiency 104
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.09
- CADD 23.90
- PolyPhen-2 0.46
- SIFT 0.11
- ClinVar: Uncertain significance (Immunodeficiency 104)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available