GFAP p.Ser192=
c.576G>A · rs747049163 · VCV2783824
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00133%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.238 | benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -1.9 | GERP -3.7 |
| Overall | ||
| CADD | 1.869 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00133%
African / African-American · 1/75,036 alleles
Filtering AF
0.000247%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000159%
Overall
0.000558%
9/1,614,150 alleles · very rare
exomes 9/1,461,844 · genomes 0/152,306 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.00133% | 75,036 |
| South Asian | 0.0011% | 91,084 |
| European (non-Finnish) | 0.000593% | 168,573 |
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
- GFAP
- Protein
- p.Ser192=
- Coding
- c.576G>A
- MANE Select
- NM_002055
- dbSNP
- rs747049163
- Type
- single nucleotide variant
- Location
- chr17:44913770 (GRCh38)
- Gene constraint
- LOEUF 0.991 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 80.70 · 1 PDB
- Residue 192
- the if rod domain; an α-helix; the 'coil 1b' region
Similar variants
- GFAP p.Ser192Leu Uncertain significance ★★ ⚠ same residue
- GFAP p.Ser192Thr Uncertain significance ★ ⚠ same residue
- GFAP p.Arg239Cys Pathogenic ★★ same type
- GFAP p.Arg239His Pathogenic ★★ same type
- GFAP p.Arg239Leu Pathogenic ★★ same type
- GFAP p.Arg258Cys Pathogenic ★★ ⚠ same type
- GFAP p.Arg376Trp Pathogenic ★★ same type
- GFAP p.Arg416Trp 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/gfap-p-ser192 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown