DDR2 p.Asp255=
c.765C>T · rs375604173 · VCV1623138
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0568%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.4 | GERP 1.8, phastCons 1 |
| Overall | ||
| CADD | 13.03 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0568%
European (non-Finnish) · 670/1,180,034 alleles
Filtering AF
0.0532%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0518%
Overall
0.044%
710/1,614,066 alleles · ultra-rare
exomes 666/1,461,872 · genomes 44/152,194 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.0568% | 1,761 |
| Remaining individualsnot grpmax-eligible | 0.0304% | 3,289 |
| Admixed American | 0.0133% | 7,499 |
| African / African-American | 0.012% | 8,324 |
| Finnishnot grpmax-eligible | 0.00625% | 16,009 |
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
- DDR2
- Protein
- p.Asp255=
- Coding
- c.765C>T
- MANE Select
- NM_006182
- dbSNP
- rs375604173
- Type
- single nucleotide variant
- Location
- chr1:162759889 (GRCh38)
- Gene constraint
- LOEUF 0.375 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 76.57 · 5 PDB
Similar variants
- DDR2 p.Arg341Ter Pathogenic/Likely pathogenic ★★ same type
- DDR2 p.Arg611Ter Pathogenic/Likely pathogenic ★★ same type
- DDR2 p.Arg752Cys Likely pathogenic ★★ same type
- DDR2 p.Leu610Pro Pathogenic/Likely pathogenic ★★ same type
- DDR2 c.1728+6T>C Uncertain significance ★★ same type
- DDR2 c.-27-11G>C Uncertain significance ★★ same type
- DDR2 c.*48A>G Uncertain significance ★★ same type
- DDR2 p.Arg128His 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/ddr2-p-asp255 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown