ANO3 p.Lys144=
c.432G>A · VCV4755973
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,459,412)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.95 | donor loss · deltas |
|---|---|---|
| Pangolin | Δ0.52 | loss · gain 0.01 · agrees with SpliceAI · independent |
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 1.8, phastCons 1 |
| Overall | ||
| CADD | 21.2 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,459,412). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- ANO3
- Protein
- p.Lys144=
- Coding
- c.432G>A
- MANE Select
- NM_031418
- Type
- single nucleotide variant
- Location
- chr11:26463148 (GRCh38)
- Gene constraint
- LOEUF 0.911 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 76.30
Similar variants
- ANO3 p.Ala657Thr Likely pathogenic ★★ same type
- ANO3 p.Asn648Ser Pathogenic/Likely pathogenic ★★ same type
- ANO3 p.Glu510Lys Pathogenic/Likely pathogenic ★★ same type
- ANO3 p.Gly567Arg Likely pathogenic ★★ ⚠ same type
- ANO3 p.Ile607Phe Pathogenic/Likely pathogenic ★★ same type
- ANO3 c.1836+4A>C Uncertain significance ★★ same type
- ANO3 c.2141+1G>A Uncertain significance ★★ same type
- ANO3 c.2276-6T>C 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/ano3-p-lys144 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown