CD37 p.Val44=
c.132G>C · rs75218499 · VCV789460
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 4.92%, eas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · G>A here scores Δ0.93 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 5.3 | GERP 4.8, phastCons 1 |
| Overall | ||
| CADD | 12.76 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
4.92%
East Asian · 2,208/44,858 alleles
Filtering AF
4.75%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 4.68%
Overall
0.192%
3,097/1,612,720 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 4.92% | 20 |
| South Asian | 0.622% | 161 |
| Remaining individualsnot grpmax-eligible | 0.221% | 453 |
| Middle Eastern | 0.066% | 1,515 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0372% | 2,690 |
| African / African-American | 0.0187% | 5,356 |
| European (non-Finnish) | 0.0129% | 7,757 |
| Admixed American | 0.005% | 20,002 |
| Finnishnot grpmax-eligible | 0.00157% | 63,722 |
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
- CD37
- Protein
- p.Val44=
- Coding
- c.132G>C
- MANE Select
- NM_001774
- dbSNP
- rs75218499
- Type
- single nucleotide variant
- Location
- chr19:49335776 (GRCh38)
- Gene constraint
- LOEUF 1.215 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 83.31
Similar variants
- CD37 p.Val44Met Uncertain significance ★ ⚠ same residue
- CD37 p.Ala221Thr Uncertain significance ★ ⚠ same type
- CD37 p.Arg112Gly Uncertain significance ★ ⚠ same type
- CD37 p.Arg112Pro Uncertain significance ★ ⚠ same type
- CD37 p.Arg120Leu Uncertain significance ★ ⚠ same type
- CD37 p.Arg281Cys Uncertain significance ★ ⚠ same type
- CD37 p.Arg281Ser Uncertain significance ★ ⚠ same type
- CD37 p.Asn170Asp 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/cd37-p-val44 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown