BCORL1 p.Leu995Pro
c.2984_2985delinsCT · VCV3393837
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 6 | GERP 1.4, phastCons 1 |
| Regional constraint | o/e 0.85 | unconstrained · MANE · 18 kb · p 2.8e-06 · regional, not allelic |
Variant & gene context
- Gene
- BCORL1
- Protein
- p.Leu995Pro
- Coding
- c.2984_2985delinsCT
- MANE Select
- NM_001379451
- Type
- Indel
- Location
- chrX:130015756 (GRCh38)
- Structure
- AlphaFold pLDDT 38.79 · 2 PDB
- Residue 995
- a UniProt-annotated variant site (found in a sterile man with oligoasthenoteratozoospermia; likely pathogenic; loss of nuclear localization; loss of interaction with skp1)
Similar variants
- BCORL1 p.Leu995Gln Uncertain significance ★ ⚠ same residue
- BCORL1 p.Ala764Asn Uncertain significance ★ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/bcorl1-p-leu995pro (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown