GRK5 p.Thr182=
c.546C>G · rs116686924 · VCV3050818
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.349%, afr)
Conditions
1
GRK5-related disorder
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 1.4 | GERP -3.7, phastCons 1 |
| Overall | ||
| CADD | 11.09 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.349%
African / African-American · 262/75,002 alleles
Filtering AF
0.315%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.301%
Overall
0.0175%
283/1,613,554 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.349% | 286 |
| Remaining individualsnot grpmax-eligible | 0.0288% | 3,472 |
| Admixed American | 0.00501% | 19,980 |
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
- GRK5
- Protein
- p.Thr182=
- Coding
- c.546C>G
- MANE Select
- NM_005308
- dbSNP
- rs116686924
- Type
- single nucleotide variant
- Location
- chr10:119430387 (GRCh38)
- Gene constraint
- LOEUF 0.604 · pLI 0.04 (gnomAD)
- Structure
- AlphaFold pLDDT 90.75 · 23 PDB
- Residue 182
- the 'n-terminal' region
Disease context
GRK5-related disorder
Similar variants
- GRK5 p.Glu285Asp Uncertain significance ⚠ same condition
- GRK5 c.440+10G>A Likely benign ★★ same type
- GRK5 c.440+9C>T Benign ★★ same type
- GRK5 p.Ala119Val Benign ★★ same type
- GRK5 p.Leu141Ile Benign ★★ same type
- GRK5 p.Phe448Leu Benign ★★ same type
- GRK5 p.Ala471Thr Uncertain significance ★ ⚠ same type
- GRK5 p.Arg169His 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/grk5-p-thr182 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown