R11H (p.Arg11His) variant of UNC13D (Protein unc-13 homolog D)
R11H (p.Arg11His) 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 0.40 / 1. The record also includes population frequency data and structural context.
R11H (p.Arg11His) variant details
- p.Arg11His
- rs574927621
- ClinGen CA8773696
- cosmic curated COSV10802
- ClinVar RCV001963527
- Uncertain significance
- Familial hemophagocytic lymphohistiocytosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.20
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Familial hemophagocytic lymphohistiocytosis 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available