K108R (p.Lys108Arg) variant of UNC13D (Protein unc-13 homolog D)
K108R (p.Lys108Arg) 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 0.19 / 1. The record also includes population frequency data and structural context.
K108R (p.Lys108Arg) variant details
- p.Lys108Arg
- rs2064959179
- ClinGen CA401115661
- ClinVar RCV001049905
- Ensembl rs2064959179
- Uncertain significance
- Familial hemophagocytic lymphohistiocytosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.06
- CADD 22.50
- PolyPhen-2 0.48
- SIFT 0.69
- ClinVar: Uncertain significance (Familial hemophagocytic lymphohistiocytosis 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available