CRH p.Arg152=
c.456G>A · rs144205489 · VCV585726
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 5 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.28%, sas)
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 1.1 | GERP -0.032, phastCons 1 |
| Overall | ||
| CADD | 10.97 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.28%
South Asian · 1,167/91,034 alleles
Filtering AF
1.22%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.2%
Overall
0.217%
3,509/1,614,034 alleles · low-frequency
exomes 3,284/1,461,676 · genomes 225/152,358 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 1.28% | 78 |
| Ashkenazi Jewishnot grpmax-eligible | 0.5% | 200 |
| Middle Eastern | 0.314% | 319 |
| Remaining individualsnot grpmax-eligible | 0.264% | 379 |
| European (non-Finnish) | 0.159% | 629 |
| Admixed American | 0.132% | 760 |
| Finnishnot grpmax-eligible | 0.0547% | 1,829 |
| African / African-American | 0.028% | 3,574 |
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
- CRH
- Protein
- p.Arg152=
- Coding
- c.456G>A
- MANE Select
- NM_000756
- dbSNP
- rs144205489
- Type
- single nucleotide variant
- Location
- chr8:66177022 (GRCh38)
- Gene constraint
- LOEUF 1.718 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 62.82 · 5 PDB
- Residue 152
- the 'disordered' region
Similar variants
- CRH p.Ala24= Likely benign ★★ same type
- CRH p.Gly96= Benign ★★ same type
- CRH p.Leu17= Benign ★★ same type
- CRH p.Pro30Arg Likely benign ★★ same type
- CRH p.Ala140Gly Uncertain significance ★ ⚠ same type
- CRH p.Ala177Thr Uncertain significance ★ same type
- CRH p.Ala24Thr Uncertain significance ★ ⚠ same type
- CRH p.Ala37Val 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/crh-p-arg152 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown