ULK4 p.Ser800Pro
c.2398T>C · VCV3813448
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
AlphaMissense
ambiguous
0.4164 · ACMG-weighted
gnomAD v4.1
Absent
absent from gnomAD v4.1
Missense predictors
0/2 damaging
REVEL, SaProt · AlphaMissense indeterminate
Computational evidence
| Protein change | ||
| AlphaMissense | 0.4164 | ambiguous |
|---|---|---|
| REVEL | 0.219 | benign-leaning |
| SaProt | LLR -8.97 | tolerated |
| ⇒ REVEL and SaProt both call this tolerated; AlphaMissense is indeterminate. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
| Constraint at this position | ||
| Conservation | phyloP 1.6 | GERP -0.8, phastCons 1 |
| Regional constraint | o/e 1.05 | unconstrained · MANE · 708 kb · p 0.038 · regional, not allelic |
| Overall | ||
| CADD | 22.4 | PHRED · no single calibrated threshold — expert panels disagree |
AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.
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
- ULK4
- Protein
- p.Ser800Pro
- Coding
- c.2398T>C
- MANE Select
- NM_017886
- Type
- single nucleotide variant
- Location
- chr3:41717785 (GRCh38)
- Gene constraint
- LOEUF 0.943 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 82.59 · 2 PDB
Similar variants
- ULK4 c.1183-8C>A Benign ★★ same type
- ULK4 c.1288-9A>T Benign ★★ same type
- ULK4 c.1349-5C>G Benign ★★ same type
- ULK4 c.1577+10G>A Benign ★★ same type
- ULK4 c.803+3A>C Benign ★★ same type
- ULK4 p.Ala542Thr Benign ★★ same type
- ULK4 p.Asn139Lys Likely benign ★★ ⚠ same type
- ULK4 p.Ile224Val Benign ★★ 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/ulk4-p-ser800pro (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown