R52Q (p.Arg52Gln) variant of UNC13D (Protein unc-13 homolog D)
R52Q (p.Arg52Gln) 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 0.31 / 1. The record also includes population frequency data and structural context.
R52Q (p.Arg52Gln) variant details
- p.Arg52Gln
- rs750613531
- ClinGen CA8773595
- NCI-TCGA Cosmic COSV5288
- cosmic curated COSV52885
- Uncertain significance
- Familial hemophagocytic lymphohistiocytosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.06
- CADD 24.00
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Uncertain significance (Familial hemophagocytic lymphohistiocytosis 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available