GRHL3 p.Pro188=
c.564C>G · rs1569881482 · VCV723975
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 -0.17 | GERP -3.7, phastCons 0.018 |
| Overall | ||
| CADD | 4.778 | 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
- GRHL3
- Protein
- p.Pro188=
- Coding
- c.564C>G
- MANE Select
- NM_198173
- dbSNP
- rs1569881482
- Type
- single nucleotide variant
- Location
- chr1:24336779 (GRCh38)
- Gene constraint
- LOEUF 0.4 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 61.27
Similar variants
- GRHL3 p.Arg391Cys Pathogenic/Likely pathogenic ★★ same type
- GRHL3 p.Arg191His Uncertain significance ★★ ⚠ same type
- GRHL3 p.Arg264Trp Uncertain significance ★★ ⚠ same type
- GRHL3 p.Arg417Gln Uncertain significance ★★ ⚠ same type
- GRHL3 p.Arg490Cys Uncertain significance ★★ ⚠ same type
- GRHL3 p.Met47Thr Uncertain significance ★★ ⚠ same type
- GRHL3 p.Pro147Ser Uncertain significance ★★ ⚠ same type
- GRHL3 p.Pro39Leu 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/grhl3-p-pro188 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown