ABCB8 p.His201=
c.603C>T · rs114212581 · VCV785238
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 3.15%, afr)
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 -0.29 | GERP -2.3 |
| Overall | ||
| CADD | 10.16 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
3.15%
African / African-American · 2,367/75,026 alleles
Filtering AF
3.05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 3.01%
Overall
0.17%
2,735/1,613,542 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 3.15% | 32 |
| Remaining individualsnot grpmax-eligible | 0.218% | 460 |
| Admixed American | 0.188% | 531 |
| Middle Eastern | 0.165% | 606 |
| East Asian | 0.0557% | 1,795 |
| European (non-Finnish) | 0.00661% | 15,128 |
| South Asian | 0.00659% | 15,181 |
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
- ABCB8
- Protein
- p.His201=
- Coding
- c.603C>T
- MANE Select
- NM_007188
- dbSNP
- rs114212581
- Type
- single nucleotide variant
- Location
- chr7:151034543 (GRCh38)
- Gene constraint
- LOEUF 0.894 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.01 · 2 PDB
- Residue 201
- an α-helix; the abc transmembrane type-1 domain
Similar variants
- ABCB8 c.564+4C>T Benign ★★ same type
- ABCB8 p.Ala101= Benign ★★ same type
- ABCB8 p.Arg452Leu Benign ★★ ⚠ same type
- ABCB8 p.Leu124Val Benign ★★ same type
- ABCB8 p.Ser39Asn Benign ★★ ⚠ same type
- ABCB8 p.Val110= Benign ★★ same type
- ABCB8 p.Val633= Benign ★★ same type
- ABCB8 p.Ala400Ser 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/abcb8-p-his201 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown