DLST p.Pro155=
c.465G>A · rs181867568 · VCV3047827
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0446%, eas)
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 1.6 | GERP 0.84, phastCons 1 |
| Overall | ||
| CADD | 11.2 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0446%
East Asian · 20/44,866 alleles
Filtering AF
0.0295%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0246%
Overall
0.00626%
101/1,612,910 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0446% | 2,243 |
| European (non-Finnish) | 0.00627% | 15,941 |
| Remaining individualsnot grpmax-eligible | 0.0048% | 20,815 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,546 |
| South Asian | 0.0022% | 45,471 |
| African / African-American | 0.00133% | 74,946 |
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
- DLST
- Protein
- p.Pro155=
- Coding
- c.465G>A
- MANE Select
- NM_001933
- dbSNP
- rs181867568
- Type
- single nucleotide variant
- Location
- chr14:74892856 (GRCh38)
- Gene constraint
- LOEUF 0.489 · pLI 0.99 (gnomAD)
- Structure
- AlphaFold pLDDT 77.40 · 2 PDB
- Residue 155
- the 'disordered' region
Similar variants
- DLST p.Pro155Leu Uncertain significance ★ ⚠ same residue
- DLST p.Ala264Val Uncertain significance ★★ ⚠ same type
- DLST p.Arg437Cys Uncertain significance ★★ same type
- DLST p.Arg4Gln Uncertain significance ★★ ⚠ same type
- DLST p.Arg6Ser Uncertain significance ★★ ⚠ same type
- DLST p.Asn44Ser Uncertain significance ★★ ⚠ same type
- DLST p.Asn51Asp Uncertain significance ★★ ⚠ same type
- DLST p.Asp304Gly 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/dlst-p-pro155 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown