G39C (p.Gly39Cys) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
G39C (p.Gly39Cys) 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 not provided; X-linked lymphoproliferative disease due to XIAP deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
G39C (p.Gly39Cys) variant details
- p.Gly39Cys
- rs775237858
- ClinGen CA10507994
- ClinVar RCV000918693
- ClinVar RCV005423091
- Conflicting interpretations
- not provided; X-linked lymphoproliferative disease due to XIAP deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.23
- CADD 18.10
- PolyPhen-2 0.42
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (not provided; X-linked lymphoproliferative disease due to XIAP d)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 9.6e-05)
- Structural context available
- Cited in: X-Linked Lymphoproliferative Disease. (PMID 20301580)