L1058P (p.Leu1058Pro) variant of UNC13D (Protein unc-13 homolog D)
L1058P (p.Leu1058Pro) in UNC13D (Protein unc-13 homolog D) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial hemophagocytic lymphohistiocytosis 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
L1058P (p.Leu1058Pro) variant details
- p.Leu1058Pro
- rs1278701043
- ClinGen CA401073788
- ClinVar RCV000691140
- TOPMed rs1278701043
- Likely pathogenic
- Familial hemophagocytic lymphohistiocytosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.95
- MetaLR 0.76
- MetaSVM 0.68
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Familial hemophagocytic lymphohistiocytosis 3)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available