AIP p.Lys201fs
c.600del · rs2134254903 · VCV1076609
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function; NMD-escape possible for C-terminal truncations |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.41 | GERP -3.6, phastCons 0.014 |
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
- AIP
- Protein
- p.Lys201fs
- Coding
- c.600del
- MANE Select
- NM_017900 · reported on NM_003977
- dbSNP
- rs2134254903
- Type
- Deletion
- Location
- chr11:67490168 (GRCh38)
- Structure
- AlphaFold pLDDT 70.14 · 81 PDB
Similar variants
- AIP p.Lys201Arg Uncertain significance ★ ⚠ same residue
- AIP p.Lys201Gln Uncertain significance ★ ⚠ same residue
- AIP p.Lys201= Likely benign ★ same residue
- AIP p.Gln239fs Pathogenic ★★ same type
- AIP p.Lys273fs Pathogenic ★★ same type
- AIP p.Pro167_Trp168insTer Pathogenic/Likely pathogenic ★★ same type
- AIP p.Arg325fs Uncertain significance ★★ same type
- AIP p.Asn264del 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/aip-p-lys201fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown