PPIG p.Asn672=
c.2016T>C · rs114584157 · VCV714131
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.912%, 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 1.6 | GERP 0.67, phastCons 1 |
| Overall | ||
| CADD | 7.913 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.912%
African / African-American · 680/74,522 alleles
Filtering AF
0.856%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.833%
Overall
0.0468%
754/1,609,404 alleles · rare
exomes 386/1,457,226 · genomes 368/152,178 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.912% | 110 |
| Admixed American | 0.056% | 1,786 |
| Remaining individualsnot grpmax-eligible | 0.0514% | 1,945 |
| European (non-Finnish) | 0.000763% | 131,001 |
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
- PPIG
- Protein
- p.Asn672=
- Coding
- c.2016T>C
- MANE Select
- NM_004792
- dbSNP
- rs114584157
- Type
- single nucleotide variant
- Location
- chr2:169637274 (GRCh38)
- Gene constraint
- LOEUF 0.472 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 56.64 · 4 PDB
- Residue 672
- the 'disordered' region
Similar variants
- PPIG c.929+11A>G Benign ★★ same type
- PPIG p.Glu495= Benign ★★ same type
- PPIG p.Thr54= Benign ★★ same type
- PPIG p.Ala542Thr Uncertain significance ★ ⚠ same type
- PPIG p.Arg235Gln Uncertain significance ★ ⚠ same type
- PPIG p.Arg239Gln Uncertain significance ★ ⚠ same type
- PPIG p.Arg350Lys Uncertain significance ★ ⚠ same type
- PPIG p.Arg352His 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/ppig-p-asn672 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown