ARG1 p.Ser72=
c.216T>A · VCV4893979
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 -2.6 | GERP -4.9 |
| Overall | ||
| CADD | 9.797 | 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
- ARG1
- Protein
- p.Ser72=
- Coding
- c.216T>A
- MANE Select
- NM_000045
- Type
- single nucleotide variant
- Location
- chr6:131579196 (GRCh38)
- Gene constraint
- LOEUF 0.833 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 97.01 · 60 PDB
- Residue 72
- a modified residue (phosphoserine); an α-helix
Similar variants
- ARG1 c.130+1G>A Pathogenic ★★ same type
- ARG1 c.465+1G>A Likely pathogenic ★★ same type
- ARG1 c.466-1G>C Pathogenic ★★ same type
- ARG1 c.466-2A>G Pathogenic/Likely pathogenic ★★ same type
- ARG1 c.560+2T>C Pathogenic ★★ same type
- ARG1 c.57+1G>A Pathogenic/Likely pathogenic ★★ same type
- ARG1 c.665+2T>C Likely pathogenic ★★ same type
- ARG1 p.Ala125Val 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/arg1-p-ser72 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown