ABCA3 p.Ser802fs
c.2404_2405del · rs2505637318 · VCV2631475
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 18 of 33 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 5.1 | GERP 0.58, 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
- ABCA3
- Protein
- p.Ser802fs
- Coding
- c.2404_2405del
- MANE Select
- NM_001089
- dbSNP
- rs2505637318
- Type
- Microsatellite
- Location
- chr16:2295599 (GRCh38)
- Gene constraint
- LOEUF 0.612 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.00 · 2 PDB
- Residue 802
- an α-helix
Disease context
Similar variants
- ABCA3 p.Phe1203del Pathogenic/Likely pathogenic ★★ same condition
- ABCA3 p.Glu292Val Pathogenic/Likely pathogenic ★★ ⚠ same condition
- ABCA3 p.Leu1584fs Likely pathogenic ★★ same condition
- ABCA3 p.Tyr492fs Pathogenic/Likely pathogenic ★★ same condition
- ABCA3 p.Val1495fs Pathogenic/Likely pathogenic ★★ same condition
- ABCA3 p.Arg1583Trp Likely pathogenic ★ same condition
- ABCA3 p.Lys915Asn Likely pathogenic ★ ⚠ same condition
- ABCA3 p.Phe1592fs Pathogenic ★ 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/abca3-p-ser802fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown