IFT52 p.Ala182fs
c.542dup · rs2145621041 · VCV1500488
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 7 of 14 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 6.5 | GERP 2.4, 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
- IFT52
- Protein
- p.Ala182fs
- Coding
- c.542dup
- MANE Select
- NM_016004
- dbSNP
- rs2145621041
- Type
- Duplication
- Location
- chr20:43613905 (GRCh38)
- Gene constraint
- LOEUF 1.116 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.21
Similar variants
- IFT52 p.Ala182Val Uncertain significance ★ ⚠ same residue
- IFT52 p.Ala182= Likely benign ★ same residue
- IFT52 p.Ile99fs Uncertain significance ★★ same type
- IFT52 c.1120+26dup Benign/Likely benign ★★ same type
- IFT52 c.700-8dup Benign ★★ same type
- IFT52 c.700-9_700-8dup Benign/Likely benign ★★ same type
- IFT52 c.1012-13dup Likely benign ★ same type
- IFT52 c.700-10_700-8dup Benign ★ 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/ift52-p-ala182fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown