P38L (p.Pro38Leu) variant of UNC13D (Protein unc-13 homolog D)
P38L (p.Pro38Leu) 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 0.07 / 1. The record also includes population frequency data and structural context.
P38L (p.Pro38Leu) variant details
- p.Pro38Leu
- rs202020609
- ClinGen CA8773672
- ClinVar RCV001071938
- 1000Genomes rs202020609
- Uncertain significance
- Familial hemophagocytic lymphohistiocytosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.0705
- REVEL 0.05
- CADD 4.61
- PolyPhen-2 0.05
- SIFT 0.30
- ClinVar: Uncertain significance (Familial hemophagocytic lymphohistiocytosis 3)
- EBI: Benign
- UniProt: Benign
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available