T99I (p.Thr99Ile) variant of UNC13D (Protein unc-13 homolog D)
T99I (p.Thr99Ile) 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 0.10 / 1. The record also includes population frequency data and structural context.
T99I (p.Thr99Ile) variant details
- p.Thr99Ile
- rs2545987881
- ClinGen CA401115951
- ClinVar RCV003027206
- Uncertain significance
- Familial hemophagocytic lymphohistiocytosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- REVEL 0.05
- CADD 0.12
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Familial hemophagocytic lymphohistiocytosis 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available