CD44 p.His85=
c.255C>T · rs1071695 · VCV3059200
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 27.6%, mid) — too common for a highly-penetrant pathogenic allele
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.298 | indeterminate |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -6.3 | GERP -5.5 |
| Overall | ||
| CADD | 5.084 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
27.6%
Middle Eastern · 1,673/6,060 alleles
Filtering AF
26.5%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 26.1%
Overall
16.2%
260,782/1,613,426 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 27.6% | 4 |
| Ashkenazi Jewishnot grpmax-eligible | 24.8% | 4 |
| Amishnot grpmax-eligible | 21.5% | 5 |
| Admixed American | 21.4% | 5 |
| Remaining individualsnot grpmax-eligible | 16.7% | 6 |
| European (non-Finnish) | 16.4% | 6 |
| African / African-American | 15.9% | 6 |
| South Asian | 14.1% | 7 |
| Finnishnot grpmax-eligible | 10.7% | 9 |
| East Asian | 6.27% | 16 |
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
- CD44
- Protein
- p.His85=
- Coding
- c.255C>T
- MANE Select
- NM_000610
- dbSNP
- rs1071695
- Type
- single nucleotide variant
- Location
- chr11:35180295 (GRCh38)
- Gene constraint
- LOEUF 0.654 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 53.31 · 7 PDB
- Residue 85
- a disulfide bond; the link domain; a β-strand
Similar variants
- CD44 c.367+7T>C Benign ★★ same type
- CD44 p.Arg463Gln Benign ★★ same type
- CD44 p.Arg673Gln Likely benign ★★ ⚠ same type
- CD44 p.Gly462= Benign ★★ same type
- CD44 p.Ile457Val Benign ★★ same type
- CD44 p.Phe245= Benign ★★ same type
- CD44 p.Thr163= Benign ★★ same type
- CD44 p.Thr393Met Benign ★★ 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/cd44-p-his85 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown