I140T (p.Ile140Thr) variant of UNC13D (Protein unc-13 homolog D)
I140T (p.Ile140Thr) in UNC13D (Protein unc-13 homolog D) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial hemophagocytic lymphohistiocytosis 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
I140T (p.Ile140Thr) variant details
- p.Ile140Thr
- rs1181554837
- ClinGen CA401114579
- ClinVar RCV001313913
- TOPMed rs1181554837
- Uncertain significance
- Familial hemophagocytic lymphohistiocytosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.84
- CADD 27.00
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Uncertain significance (Familial hemophagocytic lymphohistiocytosis 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available