P33L (p.Pro33Leu) variant of UNC13D (Protein unc-13 homolog D)
P33L (p.Pro33Leu) in UNC13D (Protein unc-13 homolog D) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; Familial hemophagocytic lymphohistiocytos. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
P33L (p.Pro33Leu) variant details
- p.Pro33Leu
- rs140437526
- ClinGen CA8773679
- cosmic curated COSV10956
- ClinVar RCV001373712
- Conflicting interpretations
- Inborn genetic diseases; not provided; Familial hemophagocytic lymphohistiocytos
- Missense
- Variant Prioritization Score for Impact Estimate 0.0877
- REVEL 0.09
- CADD 2.79
- PolyPhen-2 0.00
- SIFT 0.33
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Familial hemophagocytic l)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)