CROCC p.Thr71=
c.213A>G · rs57174186 · VCV767658
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 43.5%, eas) — 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. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · A>T here scores Δ0.27 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -4.3 | GERP -2.5 |
| Overall | ||
| CADD | 0.853 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
43.5%
East Asian · 19,331/44,462 alleles
Filtering AF
43%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 42.8%
Overall
32.6%
517,525/1,589,654 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 43.5% | 2 |
| African / African-American | 38% | 3 |
| Amishnot grpmax-eligible | 37.3% | 3 |
| Middle Eastern | 35.5% | 3 |
| Remaining individualsnot grpmax-eligible | 33.9% | 3 |
| European (non-Finnish) | 32.2% | 3 |
| Finnishnot grpmax-eligible | 32.1% | 3 |
| Ashkenazi Jewishnot grpmax-eligible | 31.9% | 3 |
| Admixed American | 31.4% | 3 |
| South Asian | 27.2% | 4 |
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.Thr71=
- Coding
- c.213A>G
- MANE Select
- NM_014675
- dbSNP
- rs57174186
- Type
- single nucleotide variant
- Location
- chr1:16924341 (GRCh38)
- Gene constraint
- LOEUF 1.165 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 69.58 · 2 PDB
Similar variants
- 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
- CROCC p.Arg903Ser Benign/Likely 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-thr71 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown