B9D2 p.Ala13fs
c.33delinsTG · rs2513408240 · VCV2501263
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 2 of 4 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.43 | GERP -4, phastCons 0.92 |
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
- B9D2
- Protein
- p.Ala13fs
- Coding
- c.33delinsTG
- MANE Select
- NM_030578
- dbSNP
- rs2513408240
- Type
- Indel
- Location
- chr19:41363487 (GRCh38)
- Gene constraint
- LOEUF 1.518 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 89.79
- Residue 13
- the c2 b9-type domain
Similar variants
- B9D2 p.Gly155Ser Pathogenic/Likely pathogenic ★★ same condition
- B9D2 p.Pro74Ser Pathogenic/Likely pathogenic ★★ same condition
- B9D2 p.Ser101Arg Pathogenic/Likely pathogenic ★★ same condition
- B9D2 p.Arg75fs Likely pathogenic ★ same condition
- B9D2 p.Ala55Asn 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/b9d2-p-ala13fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown