LY6D
Chr 8lymphocyte antigen 6 family member D
Also known as: E48, Ly-6D
The LY6D protein acts as a specification marker during the earliest stages of lymphocyte development, particularly marking early B-cell specification and distinguishing between B- and T-cell developmental pathways. Currently, no established human diseases have been linked to LY6D mutations in the medical literature. The gene shows low constraint against loss-of-function variants (pLI 0.03, LOEUF 1.87), suggesting it may tolerate functional disruption relatively well.
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
LY6D · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools