R24G (p.Arg24Gly) variant of UNC13D (Protein unc-13 homolog D)
R24G (p.Arg24Gly) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R24G (p.Arg24Gly) variant details
- p.Arg24Gly
- rs749234163
- ClinGen CA294091602
- ClinVar RCV001959813
- ClinVar RCV004793624
- Uncertain significance
- Familial hemophagocytic lymphohistiocytosis 3; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.21
- CADD 22.60
- ClinVar: Uncertain significance (Familial hemophagocytic lymphohistiocytosis 3; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available