CROCC p.Arg903=
c.2709C>G · VCV4234372
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00882%, nfe)
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 0.11 | GERP -2.5, phastCons 0.003 |
| Overall | ||
| CADD | 14.37 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00882%
European (non-Finnish) · 104/1,179,768 alleles
Filtering AF
0.00741%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00692%
Overall
0.00683%
110/1,611,418 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.00882% | 11,344 |
| Remaining individualsnot grpmax-eligible | 0.00321% | 31,144 |
| South Asian | 0.0022% | 45,491 |
| Admixed American | 0.00167% | 60,002 |
| African / African-American | 0.00134% | 74,892 |
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
- CROCC
- Protein
- p.Arg903=
- Coding
- c.2709C>G
- MANE Select
- NM_014675
- Type
- single nucleotide variant
- Location
- chr1:16948799 (GRCh38)
- Gene constraint
- LOEUF 1.165 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 69.58 · 2 PDB
Similar variants
- CROCC p.Arg903Ser Benign/Likely benign ★★ same residue
- CROCC p.Arg1094Trp Uncertain significance ★★ ⚠ same type
- CROCC p.Asp1119His Uncertain significance ★★ ⚠ same type
- CROCC p.Gly486Arg Uncertain significance ★★ ⚠ same type
- CROCC p.Arg1729Gln Likely benign ★★ same type
- CROCC p.Arg1908Cys Benign ★★ ⚠ same type
- CROCC p.Arg675His Benign ★★ same type
- CROCC p.Arg691His 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/crocc-p-arg903 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown