R23H (p.Arg23His) variant of UNC13D (Protein unc-13 homolog D)
R23H (p.Arg23His) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R23H (p.Arg23His) variant details
- p.Arg23His
- rs554971343
- ClinGen CA8773689
- NCI-TCGA Cosmic COSV9925
- cosmic curated COSV99257
- Uncertain significance
- Familial hemophagocytic lymphohistiocytosis 3; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.07
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (Familial hemophagocytic lymphohistiocytosis 3; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available