B9D2 p.Ala55Asn
c.163_164delinsAA · rs1555756363 · VCV461769
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
2
Meckel syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 1.7, phastCons 1 |
| Regional constraint | o/e 0.90 | unconstrained · MANE · 8,816 bp · p 0.14 · regional, not allelic |
Population frequency
dbSNP / gnomAD
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.Ala55Asn
- Coding
- c.163_164delinsAA
- MANE Select
- NM_030578
- dbSNP
- rs1555756363
- Type
- Indel
- Location
- chr19:41357947 (GRCh38)
- Gene constraint
- LOEUF 1.518 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 89.79
- Residue 55
- the c2 b9-type domain
Similar variants
- B9D2 p.Ala55Asp Uncertain significance ★ ⚠ same residue
- B9D2 p.Ala55Thr Uncertain significance ★ ⚠ same residue
- B9D2 p.Asp53fs Pathogenic/Likely pathogenic ★★ same condition
- B9D2 p.Gly155Ser Pathogenic/Likely pathogenic ★★ same condition
- B9D2 p.Pro74Ser Pathogenic/Likely pathogenic ★★ same condition
- B9D2 p.Arg88Cys Uncertain significance ★★ ⚠ same condition
- B9D2 p.Gln50His Uncertain significance ★★ ⚠ same condition
- B9D2 p.Gly162Cys Uncertain significance ★★ ⚠ same condition
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-ala55asn (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown