ADNP p.Pro591=
c.1773A>C · rs1568707489 · VCV589109
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
Inborn genetic diseases
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.95 | GERP -2.5, phastCons 1 |
| Overall | ||
| CADD | 7.36 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- ADNP
- Protein
- p.Pro591=
- Coding
- c.1773A>C
- MANE Select
- NM_001282531
- dbSNP
- rs1568707489
- Type
- single nucleotide variant
- Location
- chr20:50892941 (GRCh38)
- Gene constraint
- LOEUF 0.106 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 57.07
Similar variants
- ADNP p.Pro591Ala Uncertain significance ★★ ⚠ same residue
- ADNP p.Pro591Ser Likely benign ★★ same residue
- ADNP p.Pro591Gln Uncertain significance ★ ⚠ same residue
- ADNP p.Ser738Ter Pathogenic ★★ same condition
- ADNP p.Trp446Ter Pathogenic ★★ same condition
- ADNP p.Arg264Gln Uncertain significance ★★ ⚠ same condition
- ADNP p.Arg296Gln Uncertain significance ★★ ⚠ same condition
- ADNP p.Asn331Tyr Uncertain significance ★★ ⚠ same condition
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/adnp-p-pro591 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown