R24H (p.Arg24His) variant of UNC13D (Protein unc-13 homolog D)
R24H (p.Arg24His) 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 0.22 / 1. The record also includes population frequency data and structural context.
R24H (p.Arg24His) variant details
- p.Arg24His
- rs777619516
- ClinGen CA8773687
- cosmic curated COSV52886
- ClinVar RCV000688781
- Uncertain significance
- not provided; Familial hemophagocytic lymphohistiocytosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.17
- CADD 22.60
- PolyPhen-2 0.40
- SIFT 0.02
- 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 8.8e-05)
- Structural context available