MAP3K12 p.Pro73Thr
c.217C>A · rs1268156219 · VCV2482201
Uncertain significance
Single submitter
Classification
Uncertain significance
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. | ||
| REVEL | 0.128 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Pangolin | Δ0.26 | gain · loss 0.00 · not in the SpliceAI release · independent |
| Constraint at this position | ||
| Conservation | phyloP 3.2 | GERP 1.6, phastCons 1 |
| Regional constraint | o/e 0.89 | unconstrained · MANE · 352 bp · p 0.18 · regional, not allelic |
| Overall | ||
| CADD | 18.0 | 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
- MAP3K12
- Protein
- p.Pro73Thr
- Coding
- c.217C>A
- MANE Select
- NM_001193511
- dbSNP
- rs1268156219
- Type
- single nucleotide variant
- Location
- chr12:53487175 (GRCh38)
- Gene constraint
- LOEUF 0.247 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 60.80 · 12 PDB
- Residue 73
- the 'disordered' region
Similar variants
- MAP3K12 p.Gly661Arg Uncertain significance ★★ ⚠ same type
- MAP3K12 p.Gly673Ser Benign ★★ same type
- MAP3K12 p.Ala671Asp Uncertain significance ★ ⚠ same type
- MAP3K12 p.Arg106Gln Uncertain significance ★ ⚠ same type
- MAP3K12 p.Arg176Cys Uncertain significance ★ ⚠ same type
- MAP3K12 p.Arg236Trp Uncertain significance ★ ⚠ same type
- MAP3K12 p.Arg488Lys Uncertain significance ★ ⚠ same type
- MAP3K12 p.Arg572Gln 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/map3k12-p-pro73thr (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown