R11P (p.Arg11Pro) variant of UNC13D (Protein unc-13 homolog D)
R11P (p.Arg11Pro) 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 not specified; Familial hemophagocytic lymphohistiocytosis 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R11P (p.Arg11Pro) variant details
- p.Arg11Pro
- rs574927621
- ClinGen CA8773695
- NCI-TCGA Cosmic COSV5288
- cosmic curated COSV52884
- Uncertain significance
- not specified; Familial hemophagocytic lymphohistiocytosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.35
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Uncertain significance (not specified; Familial hemophagocytic lymphohistiocytosis 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available