AVPR2 p.Leu111fs
c.331_332del · rs1557100572 · VCV2737426
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 3 of 4 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.2 | GERP -1.2, phastCons 0.51 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- AVPR2
- Protein
- p.Leu111fs
- Coding
- c.331_332del
- MANE Select
- NM_000054
- dbSNP
- rs1557100572
- Type
- Deletion
- Location
- chrX:153905837 (GRCh38)
- Structure
- AlphaFold pLDDT 76.84 · 44 PDB
- Residue 111
- an α-helix
Similar variants
- AVPR2 p.Leu111Pro Uncertain significance ★ ⚠ same residue
- AVPR2 p.Arg158fs Pathogenic/Likely pathogenic ★★ same type
- AVPR2 p.Arg247fs Pathogenic ★★ same type
- AVPR2 p.Arg251fs Likely pathogenic ★★ same type
- AVPR2 p.Gly185fs Pathogenic/Likely pathogenic ★★ same type
- AVPR2 p.Gly257fs Likely pathogenic ★★ same type
- AVPR2 p.Ile46fs Pathogenic ★★ same type
- AVPR2 p.Phe328fs Pathogenic/Likely pathogenic ★★ 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/avpr2-p-leu111fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown