GRK5 p.Val11Phe
c.30_31delinsCT · rs1848415086 · VCV983130
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
1
neurodevelopmental disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 4.7 | GERP 0.78, phastCons 1 |
| Regional constraint | o/e 0.79 | unconstrained · MANE · 247 kb · p 4.3e-09 · regional, not allelic |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- GRK5
- Protein
- p.Val11Phe
- Coding
- c.30_31delinsCT
- MANE Select
- NM_005308
- dbSNP
- rs1848415086
- Type
- Indel
- Location
- chr10:119207947 (GRCh38)
- Gene constraint
- LOEUF 0.604 · pLI 0.04 (gnomAD)
- Structure
- AlphaFold pLDDT 90.75 · 23 PDB
- Residue 11
- an α-helix; the 'n-terminal' region
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-val11phe (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown