HPS3 p.Ala68fs
c.202_203insTGTTA · rs2108112474 · VCV1070801
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 1 of 17 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 5.4 | GERP 0.98, 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
- HPS3
- Protein
- p.Ala68fs
- Coding
- c.202_203insTGTTA
- MANE Select
- NM_032383
- dbSNP
- rs2108112474
- Type
- Insertion
- Location
- chr3:149129925 (GRCh38)
- Gene constraint
- LOEUF 0.684 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 82.67
Similar variants
- HPS3 p.Ala68= Likely benign ★ same residue
- HPS3 p.Ala416fs Pathogenic/Likely pathogenic ★★ same type
- HPS3 p.Ser244fs Pathogenic ★★ same type
- HPS3 c.2292+1_2292+2insAATC Likely pathogenic ★ same type
- HPS3 p.Leu207fs Likely pathogenic ★ same type
- HPS3 p.Lys264fs Likely pathogenic ★ same type
- HPS3 p.Met201fs Likely pathogenic ★ same type
- HPS3 p.Ser276fs Likely pathogenic ★ 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/hps3-p-ala68fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown