R23L (p.Arg23Leu) variant of UNC13D (Protein unc-13 homolog D)
R23L (p.Arg23Leu) 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 0.34 / 1. The record also includes population frequency data and structural context.
R23L (p.Arg23Leu) variant details
- p.Arg23Leu
- rs554971343
- ClinGen CA401120229
- ClinVar RCV003092810
- Uncertain significance
- Familial hemophagocytic lymphohistiocytosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.16
- CADD 23.30
- PolyPhen-2 0.17
- SIFT 0.00
- ClinVar: Uncertain significance (Familial hemophagocytic lymphohistiocytosis 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available