Q101R (p.Gln101Arg) variant of UNC13D (Protein unc-13 homolog D)
Q101R (p.Gln101Arg) 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 0.08 / 1. The record also includes population frequency data and structural context.
Q101R (p.Gln101Arg) variant details
- p.Gln101Arg
- rs1280197502
- ClinGen CA401115914
- ClinVar RCV000801840
- gnomAD rs1280197502
- Uncertain significance
- Familial hemophagocytic lymphohistiocytosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.0823
- REVEL 0.02
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (Familial hemophagocytic lymphohistiocytosis 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available