R83Q (p.Arg83Gln) variant of UNC13D (Protein unc-13 homolog D)
R83Q (p.Arg83Gln) 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 not provided; Familial hemophagocytic lymphohistiocytosis 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
R83Q (p.Arg83Gln) variant details
- p.Arg83Gln
- rs143944122
- ClinGen CA8773577
- cosmic curated COSV10503
- ClinVar RCV000809917
- Uncertain significance
- not provided; Familial hemophagocytic lymphohistiocytosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.0413
- REVEL 0.02
- CADD 0.44
- PolyPhen-2 0.00
- SIFT 0.80
- ClinVar: Uncertain significance (not provided; Familial hemophagocytic lymphohistiocytosis 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available