P33Q (p.Pro33Gln) variant of UNC13D (Protein unc-13 homolog D)
P33Q (p.Pro33Gln) 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 0.08 / 1. The record also includes population frequency data and structural context.
P33Q (p.Pro33Gln) variant details
- p.Pro33Gln
- rs140437526
- ClinGen CA8773680
- ClinVar RCV002608897
- 1000Genomes rs140437526
- Uncertain significance
- Familial hemophagocytic lymphohistiocytosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.0822
- REVEL 0.09
- CADD 1.28
- PolyPhen-2 0.06
- SIFT 0.42
- ClinVar: Uncertain significance (Familial hemophagocytic lymphohistiocytosis 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available