T103M (p.Thr103Met) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
T103M (p.Thr103Met) in XIAP (E3 ubiquitin-protein ligase XIAP) 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; X-linked lymphoproliferative disease due. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
T103M (p.Thr103Met) variant details
- p.Thr103Met
- rs749157868
- ClinGen CA10508012
- cosmic curated COSV63023
- ClinVar RCV001510246
- Conflicting interpretations
- Inborn genetic diseases; not provided; X-linked lymphoproliferative disease due
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.02
- CADD 5.16
- PolyPhen-2 0.04
- SIFT 0.24
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; X-linked lymphoproliferat)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 0.00026)
- 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)