ABCB8 p.Val110=
c.330C>T · rs149897534 · VCV727305
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.509%, 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 -4 | GERP -2.5 |
| Overall | ||
| CADD | 0.465 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.509%
African / African-American · 382/75,028 alleles
Filtering AF
0.467%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.45%
Overall
0.0267%
431/1,613,890 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.509% | 196 |
| Remaining individualsnot grpmax-eligible | 0.032% | 3,125 |
| Admixed American | 0.0233% | 4,285 |
| South Asian | 0.00439% | 22,762 |
| East Asian | 0.00223% | 44,880 |
| European (non-Finnish) | 0.000848% | 117,991 |
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.Val110=
- Coding
- c.330C>T
- MANE Select
- NM_007188
- dbSNP
- rs149897534
- Type
- single nucleotide variant
- Location
- chr7:151033839 (GRCh38)
- Gene constraint
- LOEUF 0.894 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.01 · 2 PDB
Similar variants
- ABCB8 c.564+4C>T Benign ★★ same type
- ABCB8 p.Ala101= Benign ★★ same type
- ABCB8 p.Arg452Leu Benign ★★ ⚠ same type
- ABCB8 p.His201= Benign ★★ same type
- ABCB8 p.Leu124Val Benign ★★ same type
- ABCB8 p.Ser39Asn 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-val110 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown