T76M (p.Thr76Met) variant of UNC13D (Protein unc-13 homolog D)
T76M (p.Thr76Met) in UNC13D (Protein unc-13 homolog D) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Familial hemophagocytic lymphohistiocytosis 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
T76M (p.Thr76Met) variant details
- p.Thr76Met
- rs78028658
- ClinGen CA8773582
- cosmic curated COSV52886
- ClinVar RCV000640097
- Conflicting interpretations
- not specified; not provided; Familial hemophagocytic lymphohistiocytosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.17
- CADD 4.91
- PolyPhen-2 0.14
- SIFT 0.23
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Familial hemophagocytic lymphohisti)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available