DSEL p.Pro942Ser
c.2824C>T · rs118048833 · VCV783071
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.48%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.079 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 1.4 | GERP 0.54, phastCons 1 |
| Regional constraint | o/e 0.92 | unconstrained · MANE · 2,707 bp · p 0.014 · regional, not allelic |
| Overall | ||
| CADD | 10.75 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.48%
European (non-Finnish) · 17,433/1,180,028 alleles
Filtering AF
1.46%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.45%
Overall
1.22%
19,637/1,614,122 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 1.48% | 68 |
| Remaining individualsnot grpmax-eligible | 1.08% | 93 |
| Middle Eastern | 1.04% | 96 |
| Ashkenazi Jewishnot grpmax-eligible | 0.929% | 108 |
| Admixed American | 0.67% | 149 |
| Finnishnot grpmax-eligible | 0.422% | 237 |
| South Asian | 0.374% | 267 |
| African / African-American | 0.236% | 424 |
| Amishnot grpmax-eligible | 0.11% | 912 |
| East Asian | 0.00446% | 22,442 |
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
- DSEL
- Protein
- p.Pro942Ser
- Coding
- c.2824C>T
- MANE Select
- NM_032160
- dbSNP
- rs118048833
- Type
- single nucleotide variant
- Location
- chr18:67511785 (GRCh38)
- Gene constraint
- LOEUF 0.743 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 85.75
Similar variants
- DSEL p.Tyr730Cys Likely benign ★★ same type
- DSEL c.-1C>G Uncertain significance ★ same type
- DSEL p.Ala1110Val Uncertain significance ★ same type
- DSEL p.Ala178Thr Uncertain significance ★ same type
- DSEL p.Ala236Thr Uncertain significance ★ same type
- DSEL p.Ala278Thr Uncertain significance ★ same type
- DSEL p.Ala2Thr Uncertain significance ★ same type
- DSEL p.Ala356Thr 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/dsel-p-pro942ser (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown