CRX p.Ser206=
c.618C>T · rs145117150 · VCV287055
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 5 submitters
gnomAD v4.1
Rare
rare (popmax 0.212%, afr)
Conditions
3
inherited retinal dystrophy
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 -8 | GERP -3.4 |
| Overall | ||
| CADD | 1.008 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.212%
African / African-American · 159/75,054 alleles
Filtering AF
0.185%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.175%
Overall
0.0134%
217/1,613,922 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.212% | 472 |
| East Asian | 0.0334% | 2,991 |
| Remaining individualsnot grpmax-eligible | 0.0208% | 4,807 |
| Admixed American | 0.0117% | 8,573 |
| South Asian | 0.0022% | 45,539 |
| European (non-Finnish) | 0.00178% | 56,191 |
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
- CRX
- Protein
- p.Ser206=
- Coding
- c.618C>T
- MANE Select
- NM_000554
- dbSNP
- rs145117150
- Type
- single nucleotide variant
- Location
- chr19:47839685 (GRCh38)
- Gene constraint
- LOEUF 0.673 · pLI 0.72 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 61.78 · 1 PDB
Similar variants
- CRX p.Ser206Pro Uncertain significance ★★ ⚠ same residue
- CRX p.Ser206fs Pathogenic ★★ same residue
- CRX c.101-1G>A Pathogenic/Likely pathogenic ★★ same condition
- CRX p.Arg40Gln Pathogenic/Likely pathogenic ★★ same condition
- CRX p.Arg40Trp Pathogenic/Likely pathogenic ★★ same condition
- CRX p.Arg41Gln Pathogenic/Likely pathogenic ★★ same condition
- CRX p.Arg41Pro Likely pathogenic ★★ same condition
- CRX p.Arg43Cys Pathogenic ★★ same condition
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/crx-p-ser206 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown