AVP p.Arg145=
c.433C>A · rs1044716891 · VCV2179297
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0541%, afr)
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 2.4 | GERP -3, phastCons 1 |
| Overall | ||
| CADD | 13.09 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0541%
African / African-American · 35/64,648 alleles
Filtering AF
0.04%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0351%
Overall
0.0031%
40/1,292,370 alleles · ultra-rare
exomes 15/1,140,360 · genomes 25/152,010 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0541% | 1,847 |
| Admixed American | 0.0119% | 8,407 |
| Remaining individualsnot grpmax-eligible | 0.00417% | 24,000 |
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
- AVP
- Protein
- p.Arg145=
- Coding
- c.433C>A
- MANE Select
- NM_000490
- dbSNP
- rs1044716891
- Type
- single nucleotide variant
- Location
- chr20:3082692 (GRCh38)
- Gene constraint
- LOEUF 1.923 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.83 · 5 PDB
- Residue 145
- a UniProt-annotated variant site (in ndi)
Similar variants
- AVP p.Arg145Pro Uncertain significance ★ ⚠ same residue
- AVP p.Ala19Thr Pathogenic ★★ ⚠ same type
- AVP p.Cys92Tyr Likely pathogenic ★★ same type
- AVP p.Glu108Ter Pathogenic ★★ same type
- AVP p.Gly54Arg Pathogenic ★★ same type
- AVP p.Gly96Asp Pathogenic/Likely pathogenic ★★ same type
- AVP p.Ser87Phe Pathogenic/Likely pathogenic ★★ ⚠ same type
- AVP c.322+4C>A 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/avp-p-arg145 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown