ABCC6 p.Val1055fs
c.3162_3163insA · VCV4745133
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 23 of 31 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.016 | GERP -0.81, phastCons 0.001 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ABCC6
- Protein
- p.Val1055fs
- Coding
- c.3162_3163insA
- MANE Select
- NM_001171
- Type
- Insertion
- Location
- chr16:16165766 (GRCh38)
- Gene constraint
- LOEUF 0.917 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.32 · 4 PDB
- Residue 1055
- the abc transmembrane type-1 2 domain
Similar variants
- ABCC6 p.Val1055= Likely benign ★ same residue
- ABCC6 p.? Pathogenic ★ same type
- ABCC6 p.Ala941fs Likely pathogenic ★ same type
- ABCC6 c.601-11_601-10insGGA Uncertain significance ★ same type
- ABCC6 p.Gln1408fs Likely pathogenic same type
- ABCC6 p.Ser1232fs Likely pathogenic same type
- ABCC6 p.His589fs 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/abcc6-p-val1055fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown