TULP1 p.Asp127=
c.381C>T · rs141034619 · VCV1136977
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.05%, mid)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -6 | GERP -2.8 |
| Overall | ||
| CADD | 0.329 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.05%
Middle Eastern · 3/5,998 alleles
Filtering AF
0.0358%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0315%
Overall
0.00344%
55/1,600,464 alleles · ultra-rare
exomes 32/1,449,276 · genomes 23/151,188 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.05% | 1,999 |
| African / African-American | 0.0482% | 2,073 |
| South Asian | 0.0055% | 18,196 |
| Remaining individualsnot grpmax-eligible | 0.00484% | 20,662 |
| Admixed American | 0.00336% | 29,737 |
| European (non-Finnish) | 0.000511% | 195,611 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- TULP1
- Protein
- p.Asp127=
- Coding
- c.381C>T
- MANE Select
- NM_003322
- dbSNP
- rs141034619
- Type
- single nucleotide variant
- Location
- chr6:35510979 (GRCh38)
- Gene constraint
- LOEUF 1.019 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 66.10 · 2 PDB
- Residue 127
- the 'disordered' region; a UniProt-annotated variant site (in rp14)
Similar variants
- TULP1 p.Asp127Asn Uncertain significance ★ ⚠ same residue
- TULP1 p.Asp127Val Uncertain significance ★ ⚠ same residue
- TULP1 c.1112+1G>A Likely pathogenic ★★ same type
- TULP1 c.1495+1G>A Pathogenic/Likely pathogenic ★★ same type
- TULP1 c.1496-6C>A Pathogenic/Likely pathogenic ★★ same type
- TULP1 c.718+2T>C Pathogenic ★★ same type
- TULP1 c.99+1G>A Pathogenic/Likely pathogenic ★★ same type
- TULP1 c.999+5G>C Pathogenic/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/tulp1-p-asp127 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown