R24S (p.Arg24Ser) variant of UNC13D (Protein unc-13 homolog D)
R24S (p.Arg24Ser) 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 0.30 / 1. The record also includes population frequency data and structural context.
R24S (p.Arg24Ser) variant details
- p.Arg24Ser
- rs749234163
- ClinGen CA401120223
- cosmic curated COSV10875
- ClinVar RCV000640095
- Uncertain significance
- Familial hemophagocytic lymphohistiocytosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.15
- CADD 23.50
- PolyPhen-2 0.10
- SIFT 0.02
- ClinVar: Uncertain significance (Familial hemophagocytic lymphohistiocytosis 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available