PLTP p.Ala283=
c.849G>A · rs61731059 · VCV3048679
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0833%, amr)
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 -16 | GERP -3.6 |
| Overall | ||
| CADD | 0.171 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0833%
Admixed American · 50/60,018 alleles
Filtering AF
0.0648%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0583%
Overall
0.014%
226/1,614,154 alleles · ultra-rare
exomes 211/1,461,894 · genomes 15/152,260 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0833% | 1,200 |
| European (non-Finnish) | 0.0134% | 7,469 |
| African / African-American | 0.00934% | 10,706 |
| East Asian | 0.00891% | 11,225 |
| Remaining individualsnot grpmax-eligible | 0.008% | 12,498 |
| Finnishnot grpmax-eligible | 0.00312% | 32,024 |
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
- PLTP
- Protein
- p.Ala283=
- Coding
- c.849G>A
- MANE Select
- NM_006227
- dbSNP
- rs61731059
- Type
- single nucleotide variant
- Location
- chr20:45904975 (GRCh38)
- Gene constraint
- LOEUF 1.002 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 89.36
Similar variants
- PLTP p.Ala283Thr Uncertain significance ★ ⚠ same residue
- PLTP p.Ala283Val Uncertain significance ★ ⚠ same residue
- PLTP p.Ala155Thr Uncertain significance ★★ ⚠ same type
- PLTP p.Ala155Val Uncertain significance ★★ ⚠ same type
- PLTP p.Arg177Cys Uncertain significance ★★ ⚠ same type
- PLTP p.Arg251Gln Uncertain significance ★★ ⚠ same type
- PLTP p.Arg372His Uncertain significance ★★ ⚠ same type
- PLTP p.Arg380Gln 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/pltp-p-ala283 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown