MAP3K12 p.Pro130fs
c.389_390del · rs2499344668 · VCV1710465
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 2 of 14 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.6 | GERP 1.6, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
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
- MAP3K12
- Protein
- p.Pro130fs
- Coding
- c.389_390del
- MANE Select
- NM_001193511
- dbSNP
- rs2499344668
- Type
- Deletion
- Location
- chr12:53487002 (GRCh38)
- Gene constraint
- LOEUF 0.247 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 60.80 · 12 PDB
- Residue 130
- the protein kinase domain; a β-strand
Similar variants
- MAP3K12 p.Asn527fs Uncertain significance ★ same type
- MAP3K12 p.Pro312fs Uncertain significance ★ same type
- MAP3K12 p.Pro850fs 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-pro130fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown