R102Q (p.Arg102Gln) variant of UNC13D (Protein unc-13 homolog D)
R102Q (p.Arg102Gln) 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 0.07 / 1. The record also includes population frequency data and structural context.
R102Q (p.Arg102Gln) variant details
- p.Arg102Gln
- rs778208597
- ClinGen CA8773535
- NCI-TCGA Cosmic COSV9925
- cosmic curated COSV99257
- Uncertain significance
- Familial hemophagocytic lymphohistiocytosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.0663
- REVEL 0.02
- CADD 9.27
- PolyPhen-2 0.01
- SIFT 0.38
- 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 4.8e-05)
- Structural context available